Results 171 to 180 of about 11,541 (279)

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria. [PDF]

Mol Genet Metab Rep, 2022
Raghu VK, Dobrowolski SF, Sindhi R, Strauss KA, Mazariegos GV, Vockley J, Soltys K.   +6 more
europepmc   +1 more source

Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach. [PDF]

Orphanet J Rare Dis
Rostampour N, Dalili S, Moravej H, Afshar Z, Yazdani N, Mousavi ST, Rostami P, Zamanfar D, Yahay M, Nikravesh A, Beyzaei Z, Davoodi MA, Sedaghat A, Hakemzadeh T, Talea A.   +14 more
europepmc   +1 more source

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

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

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

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

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

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

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 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