Results 141 to 150 of about 5,966 (238)

A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD). [PDF]

Healthcare (Basel), 2023
Banjar HR.
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

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

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

Maple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report. [PDF]

BMC Pediatr
Baidya S, Thapa J, Kadel A, Kharal N, Lamichhane M, Dubey RK, Raut M, Bhattarai A, Tuladhar ET, Sharma VK, Niraula A.   +10 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

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

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

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