Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Test2 - elhamkhani - TriplyDB

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

http://www.wikidata.org/entity/Q26865440

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Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.Antenatal nephromegaly and propionic acidemia: a case report A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.Guidelines for acute management of hyperammonemia in the Middle East region.Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.Interrelations between 3-hydroxypropionate and propionate metabolism in rat liver: Relevance to disorders of propionyl-CoA metabolism.Infections and skin diseases mimicking diaper dermatitis.Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.Methylmalonic and propionic acidemias: clinical management update.Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders.Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorder Dietary practices in propionic acidemia: A European survey.Response to Cunningham et al.Surgical gene therapy by domino auxiliary liver transplantation.Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.The Short-Chain Fatty Acid Propionate Inhibits Adipogenic Differentiation of Human Chorion-Derived Mesenchymal Stem Cells Through the Free Fatty Acid Receptor 2.Renal Involvement in Methylmalonic Aciduria.Anaesthetic considerations in a patient with methylmalonyl-coenzyme A mutase deficiency.TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.Treatable inherited rare movement disorders.Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.Food triggers and inherited metabolic disorders: a challenge to the pediatrician.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

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2014 nî lūn-bûn

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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年論文

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2014年论文

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Suggested guidelines for the diagnosis and management of urea cycle disorders

Enteral versus parenteral nutrition for acute pancreatitis

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase

Childhood outcomes after hypothermia for neonatal encephalopathy

FRAX and the assessment of fracture probability in men and women from the UK

Genetics of propionic acidemia in a Mennonite-Amish kindred

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

CT and MR of the brain in disorders of the propionate and methylmalonate metabolism

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

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