original ) (raw )Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease
Fumio Endo
The Journal of nutrition, 2005
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Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises
patricia araujo
Journal of Inherited Metabolic Disease, 2000
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Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
George Mazariegos
Molecular Genetics and Metabolism, 2020
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Correlation between Dried Blood Spot Thin Layer Chromatography and Plasma High Performance Liquid Chromatography of Leucine/Isoleucine Levels Among Filipino Patients with Maple Syrup Urine Disease (MSUD) seen at the Institute of Human Genetics
Mary Chiong
Acta Medica Philippina, 2008
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Molecular characterization of maple syrup urine disease patients from Tunisia
Ana Moleirinho , Antonio Amorim
Gene, 2013
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Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features
Mary Chiong
Molecular Genetics and Metabolism Reports, 2016
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Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms
Fred Lorey
Molecular Genetics and Metabolism, 2010
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Glucose and Alanine Metabolism in Children with Maple Syrup Urine Disease
Morey Haymond
Journal of Clinical Investigation, 1978
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Molecular analysis of maple syrup urine disease in Jordanian families
Maha Karam
Meta Gene, 2016
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A distinct variant of intermediate maple syrup urine disease
Maria del carmen Gonzalez Rios
Clinical Genetics, 2008
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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
Bea Martinez Gutierrez
International Journal of Neonatal Screening, 2021
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Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity
Fumio Endo
Human Genetics, 1988
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Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis
M. Couce
European Journal of Paediatric Neurology, 2015
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Maple syrup urine disease: An uncommon cause for neonatal metabolic distress
Rita Christopher
Indian journal of clinical biochemistry : IJCB, 1999
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Lipid changes in the metabolome of a single case study with maple syrup urine disease (MSUD) after five days of improved diet adherence of controlled branched-chain amino acids (BCAA)
Teresa Douglas
2020
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Molecular basis of various forms of maple syrup urine disease in Chilean patients
Verónica Cornejo
Molecular Genetics & Genomic Medicine, 2021
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Maple syrup urine disease: Two different forms within a single family
Olivier Amedee-Manesme
Human Genetics, 1985
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Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity
Tatiana Amorim
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Potential Diagnostic of Branched-Chain Ketoaciduria by HPLC-DAD
Etelvino Bechara
Journal of the Brazilian Chemical Society, 2014
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Classic Maple Syrup Urine Disease in a 46-DAY-OLD Baby: A Case Report
arshad khushdil
Khyber Medical University Journal, 2018
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A nonsense mutation (R242X) in the branched‐chain α‐keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease
Paul Costeas
Human Mutation, 1998
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Molecular diagnosis of maple syrup urine disease: Screening and identification of gene mutations in the branched-chain α-ketoacid dehydrogenase multienzyme complex
Fumio Endo
Journal of Inherited Metabolic Disease, 1992
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Maple syrup urine disease: Clinical and biochemical significance of gene analysis
Fumio Endo
Journal of Inherited Metabolic Disease, 1991
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Maple Syrup Urine Disease: A Case Report
Ramesh Ramesh
Clinical proceedings - Children's Hospital of the District of Columbia
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Bacterial inhibition assay for early detection of maple syrup urine disease: Application for neonatal screening
jon paul reyes
Medical Laboratory Science, 2018
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Electrochemical (Bio)Sensing of Maple Syrup Urine Disease Biomarkers Pointing to Early Diagnosis: A Review
Sophia Karastogianni
Applied Sciences, 2020
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Amino acids levels and lipid peroxidation in maple syrup urine disease patients
Marion Deon
Clinical Biochemistry, 2009
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Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect
Carlos Wayhs , Gilian Guerreiro , Caroline Mescka
International Journal of Developmental Neuroscience, 2013
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Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease
Tayard Desudchit
Journal of Inherited Metabolic Disease, 2009
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Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach
Adrya Stembridge
Molecular Genetics and Metabolism, 2014
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Incidence of maple syrup urine disease in Portugal
Antonio Amorim , Elisa Leão-Teles , Sílvia Sequeira , Laura Vilarinho
Molecular Genetics and Metabolism, 2010
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