Results 91 to 100 of about 5,966 (238)

Molecular genetics of maple syrup urine disease in the Turkish population

The Turkish Journal of Pediatrics, 2009
In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, Serap H Kalkanoğlu-Sivri, Gülden Fatma Gökçay, Mübeccel Demirkol, Oliver Feyen, Udo Wendel   +7 more
doaj  

An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene

Stem Cell Research, 2019
The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG
Haiyan Zhang, Yanyan Ma, Xiaomei Li, Xiaomeng Yang, Yue Li, Jingyun Guan, Rui Dong, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

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  

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  

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

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

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