Results 91 to 100 of about 3,985 (198)

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease. [PDF]

, 1985
Dean J. Danner, N Armstrong, Sue C. Heffelfinger, E T Sewell, Jean H. Priest, Louis J. Elsas   +5 more
openalex   +1 more source

Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures. [PDF]

Cureus, 2023
K K H, Ajmera P, Agarwal A, Dahiya A, Parripati VK.   +4 more
europepmc   +1 more source

Outcome of maple syrup urine disease. [PDF]

, 1982
E. R. Naughten, J. A. Jenkins, D. E. M. Francis, J V Leonard   +3 more
openalex   +1 more source

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

, 2022
Charles J. Billington, Kimberly A. Chapman, Eyby Leon, Beatrix Meltzer, Seth Berger, Matthew W. Olson, Robert A. Figler, Steve Hoang, Wanxing Cui, Brian R. Wamhoff, Maria Sol Collado, Kristina Cusmano‐Ozog   +11 more
openalex   +1 more source

Maple syrup urine disease: new insights from a zebrafish model

Disease Models & Mechanisms, 2012
Nathan B. Roberts
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

Diagnosis of an intermediate case of maple syrup urine disease: A case report. [PDF]

World J Clin Cases, 2023
Lin YT, Cai YN, Ting TH, Liu L, Zeng CH, Su L, Peng MZ, Li XZ.   +7 more
europepmc   +1 more source

Maple Syrup Urine Disease

Deutsche Krankenpflegezeitschrift, 1993
Strauss KA, Puffenberger EG, Carson VJ.
europepmc   +2 more sources

Imaging findings in maple syrup urine disease: A case report

, 2018
AnjaneyaS Kathait, Paulo Puac-Polanco, Maurício Castillo   +2 more
openalex   +1 more source

Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report

, 2020
Rohini Patil, Giridhar Sethuraman, L. Umadevi, M Rathinasamy, Jayne Antony   +4 more
openalex   +2 more sources