Results 131 to 140 of about 9,849 (231)

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

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

Maple syrup urine disease

, 2015
David T. Chuang, R. Max Wynn, Rody P. Cox, Jacinta L. Chuang   +3 more
  +4 more sources

Whole-Body l-Leucine Oxidation in Patients with Variant Form of Maple Syrup Urine Disease [PDF]

, 2001
Peter Schadewaldt, Annette Bodner-Leidecker, Hans‐Werner Hammen, U. Wendel   +3 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

Gaps in the Newborn Screening Process: Using Maple Syrup Urine Disease as a Case

, 2020
Mary Ann R. Abacan, Sylvia C. Estrada, Leniza De Castro-Hamoy, Mary Anne D. Chiong   +3 more
openalex   +2 more sources

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

Neonatal maple syrup urine disease case report and literature review. [PDF]

Medicine (Baltimore), 2022
Liu Q, Li F, Zhou J, Liu X, Peng J, Gong L.   +5 more
europepmc   +1 more source

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes. [PDF]

Orphanet J Rare Dis
Sulaiman RA, Altassan R, Alshammari R, Alsayed M, Sheikh AN, Nicolas-Jilwan M, Al-Owain M, Al-Hassnan Z.   +7 more
europepmc   +1 more source