Results 1 to 10 of about 23,599 (187)
Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study [PDF]
JIMD ReportsThis study aims to determine the factors associated with mortality and neurodevelopmental morbidity in patients with Maple Syrup Urine Disease (MSUD) seen at a tertiary hospital in the Philippines during a 10‐year period.
Christine Mae S. Avila +1 more
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Hyperleucinosis during infections in maple syrup urine disease post liver transplantation [PDF]
Molecular Genetics and Metabolism Reports, 2021 Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids ...
Laura Guilder +8 more
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Menkes Maple Syrup Urine Disease: Treatment
Pediatric Neurology Briefs, 1991 Five patients with maple syrup urine disease were treated intra-venously with branched-chain amino acid-free solution of amino acids during nine episodes of acute illness and are reported from the Children’s Hospital of Philadelphia, PA.
J Gordon Millichap
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Maple Syrup Urine Disease in a Central Indiana Hereford Herd [PDF]
Case Reports in Veterinary Medicine, 2015 Maple syrup urine disease (MSUD) and further cases were identified in herd mates of a small Hereford herd in Indiana based on history, clinical signs, microscopic lesions, and biochemical and genetic testing.
Mark E. Robarge +4 more
doaj +2 more sources
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease [PDF]
Pediatrics and Neonatology, 2018 Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are
Bingjuan Han +4 more
doaj +2 more sources
CRRT: trattamento della crisi metabolica grave nella maple syrup urine disease
Giornale di Clinica Nefrologia e Dialisi, 2018 non ...
Pasquale Fatuzzo +4 more
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CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
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Saudi Journal of Anaesthesia, 2012 A 7-year-old boy, weighing 18 kg, was diagnosed with maple syrup urine disease (MSUD). He suffered from spasticity of the lower limbs and pain that did not respond to oral medications.
Abdullah M Kaki, Abeer A Arab
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Reprograming of proteasomal degradation by branched chain amino acid metabolism
Aging Cell, Volume 21, Issue 12, December 2022., 2022 Using genetics and multi‐omics analyses in Caenorhabditis elegans, we identified adaptive regulation of the ubiquitin‐proteasome system (UPS) in response to defective branched chain amino acid (BCAA) metabolism. Worms with impaired BCAA metabolism show slower turnover of a GFP‐based proteasome substrate, which is suppressed by loss‐of‐function of the ...
Sonia Ravanelli +5 more
wiley +1 more source
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
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