Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning (original) (raw)

Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease

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Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

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Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

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Diagnostic Tools of Early Brain Disturbances in an Asymptomatic Neonate with Maple Syrup Urine Disease

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Neuropediatrics, 2013

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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

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Maple syrup urine disease: An uncommon cause for neonatal metabolic distress

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Classic Maple Syrup Urine Disease in a 46-DAY-OLD Baby: A Case Report

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A distinct variant of intermediate maple syrup urine disease

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Case report: maple syrup urine disease with a novel DBT gene mutation

Saiedeh Arabi

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Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report

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Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures

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Maple Syrup Urine Disease: A Case Report

Ramesh Ramesh

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Molecular analysis of maple syrup urine disease in Jordanian families

Maha Karam

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Maple syrup urine disease: Two different forms within a single family

Olivier Amedee-Manesme

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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

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The Journal of nutrition, 2005

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The Genes Responsible for Maple Syrup Urine Disease, Molecular Pathomechanisms and Causative Mutations in Iranian Population

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Journal of Babol University of Medical Sciences, 2018

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Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients

Jyotsna Verma

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Brain Damage Reversal on Treatment in Maple Syrup Urine Disease: A Case Report

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Identification of a novel BCKDHA deletion causing maple syrup urine disease

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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

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Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report

Suja Johnson

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Twenty novel mutations in BCKDHA , BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

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Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

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Molecular characterization of maple syrup urine disease patients from Tunisia

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Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit

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Comb-like EEG pattern in maple syrup urine disease: A case report

Fatima Jaafar

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Imaging in classic form of maple syrup urine disease: A rare metabolic central nervous system

Aditi Jain

Journal of Clinical Neonatology, 2013

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Molecular basis of various forms of maple syrup urine disease in Chilean patients

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Molecular Genetics & Genomic Medicine, 2021

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A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease

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Maple syrup urine disease: Clinical and biochemical significance of gene analysis

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Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity

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Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

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Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations

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Indian journal of biochemistry & biophysics, 2013

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