Results 1 to 10 of about 9,849 (231)
PERAWATAN GIGI PADA ANAK DENGAN MAPLE SYRUP URINE DISEASE (LAPORAN KASUS) [PDF]
Journal of Dentistry Indonesia, 2015 Maple Syrup Urine Disease is a disparity of leusin decarboxilation, and isoleusin of valin defect that is synthesized with complex enzyme systems. It is a rare disease and represents disparity.
Tri Fajari, Ismu Suharsono Suwelo
doaj +4 more sources
Maple syrup urine disease decompensation misdiagnosed as a psychotic event [PDF]
Molecular Genetics and Metabolism Reports, 2022 Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine.
Tomoyasu Higashimoto +4 more
doaj +3 more sources
Maple syrup urine disease [PDF]
Global Journal of Pediatrics & Neonatal Care, 2023 Lesczcynski, Mackenzie
core +6 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 ReportsChika Takano +3 more
doaj +3 more sources
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Ana Vitoria Barban Margutti +17 more
doaj +2 more sources
Maple syrup urine disease [PDF]
The Journal of Pediatrics, 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 ...
L, CROME, G, DUTTON, C F, ROSS
+9 more sources
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination [PDF]
JCRPE, 2023 Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage.
Azza AL Shidhani +7 more
doaj +2 more sources
Pediatric liver transplant for maple syrup urine disease a single center experience [PDF]
Frontiers in PediatricsIntroductionMaple syrup urine disease (MSUD) is an autosomal recessive inborn error of branched-chain amino acid metabolism caused by an inherited deficiency of branched-chain alpha-ketoacid dehydrogenase (BCKDH) activity that degrades isoleucine ...
Ibrahim Hassan +11 more
doaj +2 more sources
RadiologyClinical History: A 6-day-old infant is admitted from the emergency department due to an abnormal metabolic screening (elevated leucine at 2250 µmol/L and valine), without metabolic acidosis. The infant alternates between periods of sleep and wakefulness and exhibits irritability and mild hypertonicity in the limbs.
Hassan SA, Gupta V.
europepmc +4 more sources