Results 151 to 160 of about 9,849 (231)

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease. [PDF]

Sci Rep
Abdelkhalek ZS, Hussein SM, Mahmoud IG, Ramadan A, Kamel MA, Girgis MY, Elmonem MA.   +6 more
europepmc   +1 more source

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. [PDF]

JIMD Rep, 2022
Yokoi K, Nakajima Y, Sudo Y, Mariya T, Kawamura R, Tsutsumi M, Inagaki H, Yoshikawa T, Ito T, Kurahashi H.   +9 more
europepmc   +1 more source

Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease. [PDF]

JIMD Rep
Tu SC, Khan M, Wolfe K, Kulkarni SS, Toolan E, Grange DK.   +5 more
europepmc   +1 more source

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review. [PDF]

BMC Med Genomics
Younes S, Elkahlout R, Kilani H, Okashah S, Sharshani HA, Rezoug Z, Zayed H, Al-Dewik N.   +7 more
europepmc   +1 more source

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

Disturbance of Cultured Rat Neuronal Network Activity Depends on Concentration and Ratio of Leucine and α-Ketoisocaproate: Implication for Acute Encephalopathy of Maple Syrup Urine Disease [PDF]

, 2003
Philipp Görtz, Hubertus Köller, Bernd Schwahn, U. Wendel, Mario Siebler   +4 more
openalex   +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

Plasma atrial natriuretic factor in patients with cirrhosis [PDF]

, 1985
Arendt, Rainer M., Gerbes, Alexander L., Jüngst, Dieter, Paumgartner, Gustav, Ritter, D., Zähringer, J.   +5 more
core  

Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report

, 2018
Gautam Satheesh, Suja Johnson, Guhan Balraj, Niyas Ahammed   +3 more
openalex   +2 more sources