Maple syrup urine disease - Open Access .click

Results 111 to 120 of about 9,849 (231)

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
core

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

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, Nance, Walter E., Winter, Phyllis +2 more
core +1 more source

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. [PDF]

, 1990
Yoshitaka Nobukuni +5 more
openalex +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
core

Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease [PDF]