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Disease on EC 5.4.2.8 - phosphomannomutase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acquired Immunodeficiency Syndrome
Meeting the Best Practice for Hearing Aid Verification in Children: Challenges and Future Directions.
adenosylhomocysteinase deficiency
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Aggressive Periodontitis
Development and evaluation of a selective and differential medium for the primary isolation of Peptostreptococcus micros.
Agranulocytosis
Prednimustine, mitoxantrone (PmM) vs cyclophosphamide, vincristine, prednisone (COP) for the treatment of advanced low-grade non-Hodgkin's lymphoma. German Low-Grade Lymphoma Study Group.
Alopecia
Phase I trial of pentamethylmelamine in patients with previously treated malignancies.
alpha-1,6-mannosyl-glycoprotein 2-beta-n-acetylglucosaminyltransferase deficiency
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency.
Arthritis
Partial meniscectomy provides no benefit for symptomatic degenerative medial meniscus posterior root tears.
Astrocytoma
Human central nervous system pharmacology of pentamethylmelamine and its metabolites.
Ataxia
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Blepharophimosis
Genetic disorders in premature ovarian failure.
Brain Diseases
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
Breast Neoplasms
Proteomic analysis of infiltrating ductal carcinoma tissues by coupled 2-D DIGE/MS/MS analysis.
Carcinogenesis
A case of peritoneal malignant mesothelioma following radiation therapy for cervical cancer.
Carcinoma
Huge peritoneal malignant mesothelioma mimicking primary ovarian carcinoma.
Peritoneal malignant mesothelioma (PMM), and primary peritoneal serous carcinoma (PPSC) and reactive mesothelial hyperplasia (RMH) of the peritoneum. Immunohistochemical and fluorescence in situ hybridisation (FISH) analyses.
Carcinosarcoma
Preclinical toxicology, pharmacokinetics and formulation of N2,N4,N6-trihydroxymethyl-N2,N4,N6-trimethylmelamine (trimelamol), a water-soluble cytotoxic s-triazine which does not require metabolic activation.
Carpal Tunnel Syndrome
Pediatric median mononeuropathies: a clinical and electromyographic study.
Cerebellar Diseases
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Cerebral Infarction
[Cerebral infarction presenting pure motor monoparesis: diagnosis by diffusion-weighted MR imaging]
Chagas Disease
Development and glycoprotein composition of the perimicrovillar membrane in Triatoma (Meccus) pallidipennis (Hemiptera: Reduviidae).
Trypanosoma cruzi Phosphomannomutase and Guanosine Diphosphate-Mannose Pyrophosphorylase Ligandability Assessment.
Chronic Periodontitis
Development and evaluation of a selective and differential medium for the primary isolation of Peptostreptococcus micros.
Congenital Disorders of Glycosylation
A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity.
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.
Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib.
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America.
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.
Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53.
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.
Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells.
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.
Corrigendum to: 'Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity'.
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Dissecting the transcriptional program of phosphomannomutase 2 deficient cells: B-LCL as a valuable model for congenital disorders of glycosylation studies.
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts.
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency.
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.
Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.
Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.
Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling.
Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes.
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
A new insight into PMM2 mutations in the French population.
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
A Zebrafish Model Of PMM2-CDG Reveals Altered Neurogenesis And A Substrate-Accumulation Mechanism For N-Linked Glycosylation Deficiency.
Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib.
Analysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphate.
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.
Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death.
DFT investigation on the reaction mechanism catalyzed by alpha-phosphomannomutase1 in protonated/deprotonated states.
Dissecting the transcriptional program of phosphomannomutase 2 deficient cells: B-LCL as a valuable model for congenital disorders of glycosylation studies.
Evolutionary history and functional diversification of phosphomannomutase genes.
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts.
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG) : Expression analysis of PMM2-CDG mutations.
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies.
In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP?Man.
Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.
Neurological roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model.
New and potential strategies for the treatment of PMM2-CDG.
Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia).
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.
Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
Underdiagnosis of mild congenital disorders of glycosylation type Ia.
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
Craniocerebral Trauma
[Pure motor monoparesis of a lower limb due to head injury: a case report].
Cystic Fibrosis
Alginate biosynthetic enzymes in mucoid and nonmucoid Pseudomonas aeruginosa: overproduction of phosphomannose isomerase, phosphomannomutase, and GDP-mannose pyrophosphorylase by overexpression of the phosphomannose isomerase (pmi) gene.
Cysts
Human central nervous system pharmacology of pentamethylmelamine and its metabolites.
Pancreatic cystic neoplasm: the role of cyst morphology, cyst fluid analysis, and expectant management.
Dysplastic Nevus Syndrome
Circulating adhesion molecules as prognostic factors for cutaneous melanoma.
Dystonia
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Endometrial Neoplasms
Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.
Epiretinal Membrane
Premacular membranes in tissue culture.
Gastrointestinal Diseases
Helicobacter pylori cag Pathogenicity Island cagL and orf17 Genotypes Predict Risk of Peptic Ulcerations but not Gastric Cancer in Iran.
Genetic Diseases, Inborn
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Glioma
Therapeutic efficacy study of novel 5-FU-loaded PMM 2.1.2-based microspheres on C6 glioma.
Head and Neck Neoplasms
Does pectoralis major flap harvesting induce upper extremity dysfunction?
Hematuria
Primary Malignant Melanoma of the Bladder Treated by Robotic Partial Cystectomy and Immunotherapy.
Hepatoblastoma
Acetaldehyde-induced growth retardation and micro-heterogeneity of the sugar chain in transferrin synthesized by HepG2 cells.
Hydrops Fetalis
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
Hyperalgesia
Blockade of Vascular Endothelial Growth Factor Receptor-1 (Flt-1), Reveals a Novel Analgesic For Osteoarthritis-Induced Joint Pain.
Link N suppresses interleukin-1?-induced biological effects on human osteoarthritic cartilage.
Hyperglycemia
Upregulation of insulin secretion and downregulation of pro-inflammatory cytokines, oxidative stress and hyperglycemia in STZ-nicotinamide-induced type 2 diabetic rats by Pseuduvaria monticola bark extract.
Hypoglycemia
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Infections
Antiserum against perimicrovillar membranes and midgut tissue reduces the development of Trypanosoma cruzi in the insect vector, Rhodnius prolixus.
How is post-mortem microbiology appraised by pathologists? Results from a practice survey conducted by ESGFOR.
Microbiology in minimally invasive autopsy: best techniques to detect infection. ESGFOR (ESCMID study group of forensic and post-mortem microbiology) guidelines.
[Malignant pleural mesothelioma in housewives in the province of Catania]
Infertility
Expanding the Spectrum of PMM2-CDG Phenotype.
Insulinoma
Upregulation of insulin secretion and downregulation of pro-inflammatory cytokines, oxidative stress and hyperglycemia in STZ-nicotinamide-induced type 2 diabetic rats by Pseuduvaria monticola bark extract.
Intellectual Disability
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Kidney Diseases, Cystic
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Latent Infection
Varicella-zoster virus (VZV) ORF17 protein induces RNA cleavage and is critical for replication of VZV at 37 degrees C but not 33 degrees C.
Liver Diseases
Effect of psoas muscle mass after endoscopic therapy for patients with esophageal varices.
Lung Neoplasms
Biotin-targeted Pluronic(®) P123/F127 mixed micelles delivering niclosamide: A repositioning strategy to treat drug-resistant lung cancer cells.
Lymphoma
alpha Interferon maintenance therapy in patients with low-grade non-Hodgkin's lymphomas after cytoreductive chemotherapy with prednimustine and mitoxantrone.
Prednimustine, mitoxantrone (PmM) vs cyclophosphamide, vincristine, prednisone (COP) for the treatment of advanced low-grade non-Hodgkin's lymphoma. German Low-Grade Lymphoma Study Group.
Lymphoma, Non-Hodgkin
Prednimustine, mitoxantrone (PmM) vs cyclophosphamide, vincristine, prednisone (COP) for the treatment of advanced low-grade non-Hodgkin's lymphoma. German Low-Grade Lymphoma Study Group.
Treatment of low-grade non-Hodgkin's lymphoma by cytoreductive chemotherapy with prednimustine/mitoxantrone followed by interferon alpha-2b maintenance: results of a clinical phase II study.
mannose-6-phosphate isomerase deficiency
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Maternal Death
Challenges and opportunities for donors in reducing maternal death and morbidity: lessons from the PMM experience.
Melanoma
CD44 and variants in melanocytic skin neoplasms.
Heterogeneity of T-cell clones infiltrating primary malignant melanomas.
Human central nervous system pharmacology of pentamethylmelamine and its metabolites.
In situ expression of B7 and CD28 receptor families in human malignant melanoma: relevance for T-cell-mediated anti-tumor immunity.
Oncogenic BRAF fusions in mucosal melanomas activate the MAPK pathway and are sensitive to MEK/PI3K inhibition or MEK/CDK4/6 inhibition.
Primary Malignant Melanoma of the Bladder Treated by Robotic Partial Cystectomy and Immunotherapy.
Prognostic factors and incidence of primary mucosal melanoma: a population-based study in France.
Mesothelioma
Chemokines involved in the early inflammatory response and in pro-tumoral activity in asbestos-exposed workers from an Italian coastal area with territorial clusters of pleural malignant mesothelioma.
Incidence of pleural mesothelioma in Liguria Region, Italy (1996-2002).
Peritoneal malignant mesothelioma (PMM), and primary peritoneal serous carcinoma (PPSC) and reactive mesothelial hyperplasia (RMH) of the peritoneum. Immunohistochemical and fluorescence in situ hybridisation (FISH) analyses.
Mesothelioma, Malignant
Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.
Migraine Disorders
Cycling Through Migraine Preventive Treatments: Implications for All-Cause Total Direct Costs and Disease-Specific Costs.
Diagnosis and treatment of the menstrual migraine patient.
Is iron deficiency anemia related to menstrual migraine? Post hoc analysis of an observational study evaluating clinical characteristics of patients with menstrual migraine.
Rizatriptan efficacy in ICHD-II pure menstrual migraine and menstrually related migraine.
Self-reported menstrual migraine in the general population.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Migraine with Aura
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Mitochondrial Diseases
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.
Mitochondrial Myopathies
Development of a Patient-Reported Outcome Questionnaire to Evaluate Primary Mitochondrial Myopathy Symptoms: The Primary Mitochondrial Myopathy Symptom Assessment.
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.
Movement Disorders
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Mucinoses
Pediatric median mononeuropathies: a clinical and electromyographic study.
Multiple Myeloma
Reconstructing the human hematopoietic niche in immunodeficient mice: opportunities for studying primary multiple myeloma.
Muscular Dystrophy, Oculopharyngeal
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
Neoplasm Metastasis
Arm lymphedema in patients treated conservatively for breast cancer: relationship to patient age and axillary node dissection technique.
CD44 and variants in melanocytic skin neoplasms.
Heterogeneity of T-cell clones infiltrating primary malignant melanomas.
Update on primary head and neck mucosal melanoma.
Neoplasms
A case of peritoneal malignant mesothelioma following radiation therapy for cervical cancer.
A clinicopathological study of pulmonary mucormycosis in cancer patients: extensive angioinvasion but limited inflammatory response.
A sensitive and specific assay for pentamethylmelamine in plasma: applicability to clinical studies.
Biochemical studies on the ability of pentamethylmelamine to interact in vivo with DNA and proteins in a sensitive murine ovarian reticular cell sarcoma.
CD44 and variants in melanocytic skin neoplasms.
Cost comparison among punctate midline myelotomy, intrathecal pain pump, and spinal cord epidural stimulator.
Expression of matrix metalloproteinases, tissue inhibitors of metalloproteinase, collagens, and Ki67 antigen in pleural malignant mesothelioma: an immunohistochemical and electron microscopic study.
Fine-Tuning of Charge-Conversion Polymer Structure for Efficient Endosomal Escape of siRNA-Loaded Calcium Phosphate Hybrid Micelles.
Hexamethylmelamine and pentamethylmelamine tissue distribution in M5076/73A ovarian cancer-bearing mice.
High CD44 surface expression on primary tumours of malignant melanoma correlates with increased metastatic risk and reduced survival.
Huge peritoneal malignant mesothelioma mimicking primary ovarian carcinoma.
Human central nervous system pharmacology of pentamethylmelamine and its metabolites.
In situ expression of B7 and CD28 receptor families in human malignant melanoma: relevance for T-cell-mediated anti-tumor immunity.
Malignant mesothelioma of the pericardium: case reports and immunohistochemical studies including Ki-67 expression.
Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.
Pentamethylmelamine: review of an aqueous analog of hexamethylmelamine.
Phase I trial of pentamethylmelamine: a clinical and pharmacologic study.
Potentiation of cytostatic but not cytolytic activity of murine macrophages after running stress.
Prognostic significance of a positive microscopic margin in high-risk extremity soft tissue sarcoma: implications for management.
Proteomic analysis of infiltrating ductal carcinoma tissues by coupled 2-D DIGE/MS/MS analysis.
Punctate midline myelotomy for the relief of visceral cancer pain.
Statistical approaches using longitudinal biomarkers for disease early detection: A comparison of methodologies.
[Application of pectoralis major myocutaneous flap in the reconstruction of tongue: an analysis of 86 cases]
[Study on the anti-tumor effect of paclitaxel mixed micelle by using in vivo optical imaging technique].
Neurologic Manifestations
Pure motor monoparesis: solitary cysticercus granuloma.
Nevus
CD44 and variants in melanocytic skin neoplasms.
Clinicopathologic, misdiagnosis and survival differences between clinically amelanotic melanomas and pigmented melanomas.
Ophthalmoplegia, Chronic Progressive External
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
Osteoma, Osteoid
Pediatric median mononeuropathies: a clinical and electromyographic study.
Osteophyte
Injected human umbilical cord-derived mesenchymal stromal cells do not appear to elicit an inflammatory response in a murine model of osteoarthritis.
Ovarian Neoplasms
Statistical approaches using longitudinal biomarkers for disease early detection: A comparison of methodologies.
Overweight
Association of Body Composition with Curve Severity in Children and Adolescents with Idiopathic Scoliosis (IS).
Effect of sarcopenic overweight on lung transplant based on 3D reconstructed psoas muscle mass.
Pancreatic Neoplasms
Punctate midline myelotomy for intractable visceral pain caused by hepatobiliary or pancreatic cancer.
Parasitemia
Evaluation of the in vitro and in vivo antiplasmodial effect of water treated with Photonic Multiphase Modulators (PMM) designed with Advanced Physics System Engineering (APSE™) and BioPhoton-X™ technology.
Periodontal Pocket
Development and evaluation of a selective and differential medium for the primary isolation of Peptostreptococcus micros.
Phenylketonurias
[Novel treatments in neurometabolic diseases: the importance of chaperones].
phosphomannomutase deficiency
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.
Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America.
Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.
Carbohydrate-deficient glycoprotein syndrome.
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Clinical Utility Gene Card for: Phosphomannomutase 2 deficiency.
Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells.
Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
Congenital disorders of glycosylation.
Congenital disorders of glycosylation: a review.
Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
Expanding the Spectrum of PMM2-CDG Phenotype.
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG) : Expression analysis of PMM2-CDG mutations.
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency.
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.
Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.
Mannose supplementation in PMM2-CDG.
Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia).
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency.
New and potential strategies for the treatment of PMM2-CDG.
Ophthalmic findings in an infant with phosphomannomutase deficiency.
Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years.
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency.
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Phosphomannomutase deficiency and normal pubertal development.
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
PMM2-CDG caused by uniparental disomy: Case report and literature review.
Proteostasis regulators as potential rescuers of PMM2 activity.
Renal involvement in PMM2-CDG, a mini-review.
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.
Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Synthesis of lipopolysaccharide O side chains by Pseudomonas aeruginosa PAO1 requires the enzyme phosphomannomutase.
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome]
Plasmacytoma
Preclinical toxicology, pharmacokinetics and formulation of N2,N4,N6-trihydroxymethyl-N2,N4,N6-trimethylmelamine (trimelamol), a water-soluble cytotoxic s-triazine which does not require metabolic activation.
Polycystic Kidney Diseases
Anterior Ischemic Optic Neuropathy in a Child Receiving Chronic Hemodialysis.
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Primary Ovarian Insufficiency
Expanding the Spectrum of PMM2-CDG Phenotype.
Protein-Losing Enteropathies
Secondary sarcopenia assessed by computed tomography can predict hospitalization for heart failure in adults with Fontan circulation.
Retinal Detachment
Premacular membrane formation after scleral buckling for primary rhegmatogenous retinal detachment: prospective study and pathophysiological insights.
Retinal Perforations
Pneumatic retinopexy using only air.
Sarcoma
Potentiation of cytostatic but not cytolytic activity of murine macrophages after running stress.
Sarcopenia
Secondary sarcopenia assessed by computed tomography can predict hospitalization for heart failure in adults with Fontan circulation.
Shoulder Pain
Association of Pectoralis Minor Muscle Extensibility, Shoulder Mobility, and Duration of Manual Wheelchair Use.
Sinusitis
Fibrin binding, fibrinolytic and fibrinogenolytic activity of plasminogen activator derived from the paranasal mucous membrane of humans.
Sleep Initiation and Maintenance Disorders
Enzymolysis peptides from Mauremys mutica plastron improve the disorder of neurotransmitter system and facilitate sleep-promoting in the PCPA-induced insomnia mice.
Sleep Wake Disorders
Persistent mirror movement associated with disabling pain and sleep arousal disorder: a case report.
Spinal Cord Diseases
Punctate Midline Myelotomy: A Historical Overview and Case Series with Detailed Efficacy and Side Effect Profiles.
Serum phosphorylated neurofilament heavy chain as a diagnostic biomarker for progressive myelomalacia in dogs with thoracolumbar intervertebral disc herniation.
Stomach Neoplasms
Helicobacter pylori cag Pathogenicity Island cagL and orf17 Genotypes Predict Risk of Peptic Ulcerations but not Gastric Cancer in Iran.
The punctate midline myelotomy concept for visceral cancer pain control--case report and review of the literature.
Stroke
[The level of middle mass molecules and lipid peroxidation in blood of patients with different forms of stroke]
Teratoma
A New Model to Predict Benign Histology in Residual Retroperitoneal Masses After Chemotherapy in Nonseminoma.
Thoracic Outlet Syndrome
Ultrasonography-guided osteopathic manipulative treatment for a patient with thoracic outlet syndrome.
Thrombocytopenia
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
Tongue Neoplasms
[Application of pectoralis major myocutaneous flap in the reconstruction of tongue: an analysis of 86 cases]
Tuberculosis
Overexpression of Mycobacterium tuberculosis manB, a phosphomannomutase that increases phosphatidylinositol mannoside biosynthesis in Mycobacterium smegmatis and mycobacterial association with human macrophages.
Urinary Bladder Neoplasms
Primary Malignant Melanoma of the Bladder Treated by Robotic Partial Cystectomy and Immunotherapy.
Varicose Ulcer
Protease-modulating matrix treatments for healing venous leg ulcers.
Vascular Ring
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.