Results 31 to 40 of about 30,957 (287)

A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease. [PDF]

J Mass Spectrom Adv Clin Lab, 2022
Piri-Moghadam H, Miller A, Pronger D, Vicente F, Charrow J, Haymond S, Lin DC.   +6 more
europepmc   +2 more sources

Treatment of maple syrup urine disease with high flow hemodialysis in a neonate

The Turkish Journal of Pediatrics, 2019
Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, however CRRT became a preferred treatment of metabolic emergencies with high leucine and ammonia levels like Maple syrup urine disease (MSUD ...
Fatih Aygün, Ertuğrul Kıykım, Çiğdem Aktuğlu-Zeybek, Tanyel Zubarioğlu, Halit Cam   +4 more
doaj   +2 more sources

Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease. [PDF]

Cureus, 2022
Morton KF, Goetz RL, Linscott KB, Van Wagoner NJ.   +3 more
europepmc   +3 more sources

Maple syrup urine disease [PDF]

The Journal of Pathology and Bacteriology, 1961
Summary An example of “maple syrup urine”disease was confirmed by amino acid chromatography; its description is accompanied by a summary of the clinical features found in other reported cases. The characteristic pattern is that of an infant who, after thriving for the first few days of life, begins to nurse poorly, develops progressive depression of ...
C. F. Ross, G. Dutton, L. Crome
  +10 more sources

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

Annals of Indian Academy of Neurology
Hui Zhu, Yi Zhong, Shuyao Zhu
doaj   +2 more sources

Maple Syrup Urine Disease: About a Case [PDF]

, 2023
Qualitative study of a clinical case, maple syrup urine disease (MAOJA), inborn error of metabolism of branched-chain amino acids with accumulation of these, resulting in severe neonatal encephalopathy, which, not being diagnosed, it leads to the ...
del Carmen, Yabor LabradaMaría, Elsy, Labrada González,, Isabel, Fong Betancourt María   +2 more
core   +2 more sources

Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al [PDF]

Molecular Genetics and Metabolism Reports
Chika Takano, Erika Ogawa, Natsuko Arai-Ichinoi, Mika Ishige   +3 more
doaj   +2 more sources

Features of clinical manifestations and treatment of individual nosological forms of hereditary metabolic diseases

Лечащий Врач, 2021
We reviewed main clinical approaches to diagnostics and therapy of key life-threatening hereditary amino-acid metabolism diseases related to the group of organic acidurias, such as maple syrup urine disease (MSUD).
L. V. Goroshko, E. G. Bakulina
doaj   +1 more source

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

Scientific Reports, 2021
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males)
X. Fang, Xiaofan Zhu, Yin Feng, Ying Bai, Xuechao Zhao, N. Liu, X. Kong   +6 more
semanticscholar   +1 more source

Leucinosis, or maple syrup urine disease (lecture and a clinical case)

Alʹmanah Kliničeskoj Mediciny, 2020
Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex.
Ju. A. Tsareva, N. I. Zryachkin, M. A. Kuznetsova, E. V. Bogacheva   +3 more
doaj   +1 more source