Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report (original) (raw)
Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures
Pranav Ajmera
Cureus, 2023
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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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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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Comb-like EEG pattern in maple syrup urine disease: A case report
Fatima Jaafar
Seizure, 2021
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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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Brain Damage Reversal on Treatment in Maple Syrup Urine Disease: A Case Report
supriya kushwaha
Pediatric Oncall, 2018
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Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report
ROHINI PATIL
International Journal of Contemporary Pediatrics, 2020
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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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Maple syrup urine disease: Two different forms within a single family
Olivier Amedee-Manesme
Human Genetics, 1985
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Case report: maple syrup urine disease with a novel DBT gene mutation
Saiedeh Arabi
BMC Pediatrics, 2019
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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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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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Diagnostic Tools of Early Brain Disturbances in an Asymptomatic Neonate with Maple Syrup Urine Disease
Nilgun Kultursay
Neuropediatrics, 2013
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Epilepsy in inborn errors of metabolism: two cases with unusual presentation
Harish Pemde
International Journal of Epilepsy, 2014
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Alternating Hemiplegia as A Major Symptom of Maple Syrup Urine Disease: Case Report
luisa simonsen
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Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation
Edward Neilan
Journal of Parenteral and Enteral Nutrition, 2014
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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
Fumio Endo
The Journal of nutrition, 2005
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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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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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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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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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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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Molecular characterization of maple syrup urine disease patients from Tunisia
Ana Moleirinho, Antonio Amorim
Gene, 2013
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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
Anthi Drousiotou
Genetic Testing and Molecular Biomarkers, 2009
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Molecular analysis of maple syrup urine disease in Jordanian families
Maha Karam
Meta Gene, 2016
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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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The Genes Responsible for Maple Syrup Urine Disease, Molecular Pathomechanisms and Causative Mutations in Iranian Population
mubabol journal
Journal of Babol University of Medical Sciences, 2018
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Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease
Kristen Skvorak, Keith Cheng
2009
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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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Glucose and Alanine Metabolism in Children with Maple Syrup Urine Disease
Morey Haymond
Journal of Clinical Investigation, 1978
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Identification of a novel BCKDHA deletion causing maple syrup urine disease
B. Woldseth
Meta Gene, 2016
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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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Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity
Tatiana Amorim
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