Results 151 to 160 of about 5,954 (223)

Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease. [PDF]

Ann Indian Acad Neurol
Zhu H, Zhong Y, Zhu S.
europepmc   +1 more source

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease. [PDF]

J Inherit Metab Dis
Tejedor JR, Soriano-Sexto A, Beccari L, Castejón-Fernández N, Correcher P, Sainz-Ledo L, Alba-Linares JJ, Urdinguio RG, Ugarte M, Fernández AF, Rodríguez-Pombo P, Fraga MF, Pérez B.   +12 more
europepmc   +1 more source

Unlocking hope: domino liver transplantation for maple syrup syndrome, a single center experience work carried out at the King Fahad Specialist Hospital. [PDF]

Front Immunol
Al Qahtani M, Aloufi R, Gaw E, Momani H, Sengupta B, Khan I, Hassan I, Bader R, Abdullah R, Tawfeeq M, Zidan A.   +10 more
europepmc   +1 more source

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant. [PDF]

Orphanet J Rare Dis
Lakkhana P, Tim-Aroon T, Khongkraparn A, Noojarern S, Wongkittichote P, Wichajarn K, Kuptanon C, Boonyawat B, Suphapeetiporn K, Wejaphikul K, Seo G, Wattanasirichaigoon D.   +11 more
europepmc   +1 more source

ON THE SUGAR COMPOSITION OF MAPLE SYRUP

ON THE SUGAR COMPOSITION OF MAPLE SYRUP
application/pdf 紀要類(bulletin) 376238 ...
openaire  

The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease. [PDF]

Nutrients
Pretese R, Bonfanti C, Faraguna MC, Fantasia M, Crescitelli V, Barzaghi S, Botti M, Mezzanotti G, Gasperini S.   +8 more
europepmc   +1 more source

Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study. [PDF]

JIMD Rep
Avila CMS, Abacan MAR.
europepmc   +1 more source

Domino Liver Transplantation: Anesthetic Considerations for a Patient With Maple Syrup Urine Disease and Type I Diabetes Mellitus. [PDF]

Cureus
Southard-Goebel C, Serrano RA.
europepmc   +1 more source

Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease. [PDF]

Genet Med Open
Tumulak MJR, Padilla CD, Ongchangco JCE, Laurino MY, Lagarde JBB, Regalado ES, Legaspi AV, Ventura ER.   +7 more
europepmc   +1 more source