Results 111 to 120 of about 59,746 (203)

Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease. [PDF]

Eur J Pediatr
Oral-Cebeci S, Aktuğlu-Zeybek Ç, Aslan B, Uysal ÖY, Cansever MŞ, Kıykım E, Zubarioglu T.   +6 more
europepmc   +1 more source

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye. [PDF]

Metab Brain Dis
Uylaş K, Yazıcı H, Altınok YA, Çelik MY, Karapınar FE, Özkaya PY, Isik E, Eraslan C, Canda E, Cogulu O, Karapınar B, Habif S, Çoker M, Uçar SK.   +13 more
europepmc   +1 more source

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  

Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease. [PDF]

Orphanet J Rare Dis
Tosi M, Daly A, Evans S, Pinto A, Ashmore C, MacDonald A.   +5 more
europepmc   +1 more source

Pediatric liver transplant for maple syrup urine disease a single center experience. [PDF]

Front Pediatr
Hassan I, Mahjoub S, Jalodi B, Khan I, Zidan A, Tawfeeq M, Al Qahtani M, Bader R, Gadour E.   +8 more
europepmc   +1 more source

Protein components of maple syrup as a potential resource for the development of novel anti‑colorectal cancer drugs. [PDF]

Oncol Rep, 2023
Yamamoto T, Shiburo R, Moriyama Y, Mitamura K, Taga A.   +4 more
europepmc   +1 more source

Evidence of docosahexaenoic acid deficiency in maple syrup urine disease: insights from plasma long-chain polyunsaturated fatty acid status. [PDF]

Eur J Clin Nutr
Zubarioglu T, Kasapçopur Ö, Akça-Yeşil S, İşat E, Şerif Cansever M, Kıykım E, Aktuğlu-Zeybek Ç.   +6 more
europepmc   +1 more source

Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease. [PDF]

Dermatol Reports, 2023
Alkhayal FA, Al Haddad S, Bakraa RM, Alqahtani A.   +3 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

Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine. [PDF]

JIMD Rep
Khalaf-Nazzal R, Haj-Ahmad H, Zaid J, AbuShamleh M, Dweikat I.   +4 more
europepmc   +1 more source