Results 111 to 120 of about 11,541 (279)
A study to determine the value of group teaching to the individual diabetic as he perceives it [PDF]
, 1962 Thesis (M.S.)--Boston ...
Johns, Marjorie P.
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Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]
, 2013 Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A +9 more
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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 +4 more
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Clinical Transplantation, 2019 Domino liver transplantation (DLT) using liver allografts from patients with metabolic disorders enhances organ utilization. Short‐ and long‐term course and outcome of these patients can impact the decision to offer this procedure to patients, especially
N. Çelik +12 more
semanticscholar +1 more source
Nodular Regenerative Hyperplasia Is a Frequent Finding in Explanted Livers of Patients With Maple Syrup Urine Disease. [PDF]
BackgroundMaple syrup urine disease (MSUD) is an autosomal recessive inherited disorder characterized by deficiency of branched-chain α-keto acid dehydrogenase complex. The affected patients can experience severe metabolic intoxication and encephalopathy
Geng, Yipeng +3 more
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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 +10 more
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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
Molecular genetics of maple syrup urine disease in the Turkish population
The Turkish Journal of Pediatrics, 2009 In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany +7 more
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