Results 161 to 170 of about 26,062 (264)

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series. [PDF]

JIMD Rep, 2022
Ziadlou M, MacDonald A.
europepmc   +1 more source

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China. [PDF]

QJM
Yang X, Yang R, Zhang T, Tan DJ, Pan R, Chen Z, Wu D, Chen C, Xu Y, Zhang L, Li X, Shu Q, Hu L.   +12 more
europepmc   +1 more source

Maple syrup urine disease associated with nephrotic syndrome in a Filipino child. [PDF]

BMJ Case Rep, 2021
Maceda EBG, Abadingo ME, Magbanua-Calalo CJ, Dator MA, Resontoc LPR, Castro-Hamoy L, Abacan MAR, Chiong MAD, Estrada SC.   +8 more
europepmc   +1 more source

Corrigendum to “Classical maple syrup urine disease and brain development: Principles of management and formula design” [Mol. Genet. Metab. 99 (2010) 333–345]

, 2011
Kevin A. Strauss, Bridget Wardley, Donna L. Robinson, Christine Hendrickson, Nicholas L. Rider, Erik G. Puffenberger, Diana A. Shellmer, Ann B. Moser, D. Holmes Morton   +8 more
openalex   +1 more source

Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease [PDF]

, 2019
Andrés Eduardo Campuzano-García, Juan Pablo Castanedo-Cázares   +1 more
openalex   +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

The use of botulinum toxin and epidural analgesia for the treatment of spasticity and pain in a patient with maple syrup urine disease

, 2012
AbdullahM Kaki, AbeerA Arab
openalex   +1 more source

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

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

Am J Med Genet A, 2022
Billington CJ, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K.   +11 more
europepmc   +1 more source

Electrochemical sensing of the maple syrup urine disease biomarker valine, using saffron-silver nanoparticles

, 2022
Sophia Κarastogianni, Ioanna Paraschi, Stella Girousi   +2 more
openalex   +1 more source