The prevalence of phenylketonuria among children with mental retardation in Kelantan [PDF]
, 2001 The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no study has been conducted to address the subject. The objectives of this study were to determine the prevalence of PKU among the mentally retarded children in Kelantan, to ...
Omar, Julia
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Cutaneous Manifestation Maple Syrup Urine Disease: Case Report
Revista FinlayMaple syrup urine disease or leucinosis is caused by an inborn error in the metabolism of three essential branched chain amino acids. During its complex dietary-nutritional management, skin lesions may appear secondary to amino acid deficiency.
Gabriel Alejandro Díaz Bernal +2 more
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CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
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Erratum to: Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report [PDF]
, 2015 Jessie Aw-Zoretic +3 more
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Population Screening for Genetic Disease [PDF]
, 1977 Recent advances in genetics and laboratory techniques have raised difficult issues for both the medical and lay communities. The desirability of initiating population screening programs is an example of one such issue that has engendered considerable ...
Mamunes, Peter
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Hypoglycemia and Maple Syrup Urine Disease: Defective Gluconeogenesis [PDF]
, 1973 Morey W. Haymond +4 more
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Maple Syrup Urine Disease (MSUD) detected in neurologic disorders Iraqi children
Journal of Contemporary Medical Sciences, 2016 Background Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in the activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched chain amino acids (leucine, isoleucine ...
Adel A. Kareem +2 more
doaj
The Molecular Basis of Maple Syrup Urine Disease [PDF]
Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC).
Jensen, Chloe
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New Developments in Screening for Inborn Errors of Metabolism [PDF]
, 1971 I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
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Hyperprolinemia as a clue in the diagnosis of a patient with a psychiatric disorder [PDF]
, 2016 Background: Over the last few years, microdeletions of the 22q11.2 region responsible for DiGeorge syndrome, or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorders.
Antunes, D. +6 more
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