Results 121 to 130 of about 11,541 (279)

Dietary Treatment of a Child with Maple Syrup Urine Disease (Branched-chain Ketoaciduria) [PDF]

, 1963
R. G. Westall
openalex   +1 more source

Further Observations on the Biochemical Lesion in Maple Syrup Urine Disease [PDF]

, 1967
P Dreyfus, Arthur L. Prensky
openalex   +1 more source

A Newborn with Maple Syrup Urine Disease

Northern International Medical College Journal, 2018
Abstract not available Northern International Medical College Journal Vol.10(1) Jul 2018: 357 ...
Ayesha Noor, Kanta Chowdhury, Shekufe Zaman, Rowshan Jahan Akhter, Saenat Haque   +4 more
openaire   +2 more sources

Cutaneous Manifestation Maple Syrup Urine Disease: Case Report

Revista Finlay
Maple 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, Mányeles Brito Vázquez, Magdalena de la Caridad Guirado Espinosa   +2 more
doaj  

Hypoglycemia and Maple Syrup Urine Disease: Defective Gluconeogenesis [PDF]

, 1973
Morey W. Haymond, Irene E. Karl, Ralph D. Feigin, Darryl C. De Vivo, Anthony S. Pagliara   +4 more
openalex   +1 more source

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, Asaad Muhsen Abood, Abdul Mahdi A. Hasan   +2 more
doaj  

A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease

Journal of Mass Spectrometry and Advances in the Clinical Lab, 2022
Hamed Piri-Moghadam, Alan Miller, D. Pronger, Faye B Vicente, J. Charrow, S. Haymond, David C. Lin   +6 more
semanticscholar   +1 more source

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
core   +1 more source

Alloisoleucine Formation in Maple Syrup Urine Disease: Isotopic Evidence for the Mechanism [PDF]

, 1980
Dwight E. Matthews, Ehud Ben-Galim, Morey W. Haymond, Dennis M. Bier   +3 more
openalex   +1 more source

Treatment of the Acute Crisis in Maple Syrup Urine Disease [PDF]

, 1998
William L. Nyhan, M Rice-Kelts, Jon B. Klein, Bruce A. Barshop   +3 more
openalex   +1 more source