Results 1 to 10 of about 8,782 (207)

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Molecular Genetics and Metabolism Reports, 2018
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid ...
Ernie Zuraida Ali, Lock-Hock Ngu
doaj   +1 more source

Serum Metabolomic Profiling of Piglets Infected with Virulent Classical Swine Fever Virus [PDF]

, 2017
Citation: Gong, W. J., Jia, J. J., Zhang, B. K., Mi, S. J., Zhang, L., Xie, X. M., . . . Tu, C. C. (2017). Serum Metabolomic Profiling of Piglets Infected with Virulent Classical Swine Fever Virus. Frontiers in Microbiology, 8, 14. doi:10.3389/fmicb.2017.
Bikai Zhang, Changchun Tu, Changchun Tu, Huancheng Guo, Jishu Shi, Junjie Jia, Li Zhang, Shijiang Mi, Wenjie Gong, Wenjie Gong, Xiaoming Xie   +10 more
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Two novel mutations in the BCKDHB gene that cause maple syrup urine disease

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, Bingchao Han, Bin Guo, Yingxia Liu, Zhiyang Cao   +4 more
doaj   +1 more source

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters [PDF]

, 1995
Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the ...
Heuvel, C.M.M. (C. M M) van den, Huijmans, J.G.M. (Jan), Jakobs, C. (Cornelis), Kleijer, W.J. (Wim), Kraan, M. (M.) van der   +4 more
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MRI brain in maple syrup urine disease

Journal of Medical Evidence
A neonate presented with vomiting, poor feeding, and progressive lethargy during the early neonatal period, with metabolic acidosis but otherwise unremarkable routine biochemistry. Magnetic resonance imaging (MRI) of the brain showed symmetrical areas of
Tripti Prajapati, Rahul Dev
doaj   +1 more source

Maple Syrup Urine Disease in a Central Indiana Hereford Herd

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, Jonathan E. Beever, Stephen D. Lenz, Christopher J. Lynch, William L. Wigle   +4 more
doaj   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
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Anästhesie und Ahornsirupkrankheit: Fallbericht und perioperatives anästhesiologisches Management [PDF]

, 2018
Zusammenfassung: Die Ahornsirupkrankheit ist eine seltene autosomal-rezessive Stoffwechselerkrankung, der eine Störung der Decarboxylierung von verzweigtkettigen Aminosäuren zugrunde liegt.
Haberstich, P., Kindler, C.H., Schürch, M.   +2 more
core  

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
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