Results 101 to 110 of about 8,782 (207)
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 Genetic Counseling Program at MCV [PDF]
, 1977 The Genetic Counseling Clinic at the Medical College of Virginia, established by Drs. Peter Mamunes and R.B. Young in 1973, has been supported since its inception by a clinical service grant from the National Foundation – March of Dimes; it is one of 83 ...
Mamunes, Peter +2 more
core +1 more source
Programa Nacional de Diagnóstico Precoce: relatório 2018 [PDF]
, 2018 Relatório de atividades do Programa Nacional de Diagnóstico Precoce (PNDP) referente ao ano de 2018. Apresentado dia 14 de maio no Porto, no âmbito do simpósio comemorativo dos 40 Anos do PNDP, o documento refere todos os casos detetados, bem como os ...
Comissão Executiva do Programa Nacional de Diagnóstico Precoce +3 more
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, 1974 The process and apparatus for qualitative and quantitative analysis of the amino acid content of a biological sample are presented. The sample is deposited on a cation exchange resin and then is washed with suitable solvents.
Graff, J., Winitz, M.
core +1 more source
Studies in Maple Syrup Urine Disease [PDF]
Archives of Disease in Childhood, 1961 C E, DENT, R G, WESTALL
openaire +2 more sources
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
, 2013 Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
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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Commentary on North Western Health Board v HW and CW (the PKU case) [PDF]
, 2016 Should the state administer a medical screening test on a child against the wishes of the family? The parents in this case refused to allow a test which would have involved taking a pinprick of blood from the child in order to test for certain metabolic ...
Coffey, Donal, Harding, Maebh
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Intramyelinic edema in maple syrup urine disease
Annals of Indian Academy of Neurology, 2014 Leema Pauline Cornelius +3 more
doaj +1 more source
Newborn screening using tandem mass spectrometry: A systematic review [PDF]
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C. +4 more
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