Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]
, 2015 This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "
PARATA, G.
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Homocistinuria y Acidemia Metilmalónica (CbIC) de evolución fatal en un recién nacido [PDF]
La forma CblC de la Acidemia Metilmalónica (AMMC CbIC) es un error congénito del metabolismo intracelular de la cobalamina. Los síntomas clínicos consisten en descompensación neurológica y síntomas sistémicos.
Carlos Vicente, Juan Carlos de +7 more
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Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset. [PDF]
, 1996 Ralf Gold +6 more
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Case Report: A Case of Gait Disorder Due to Combined Methylmalonic Aciduria and Homocystinuria
Journal of Rehabilitation, 2000 This disorder is too rare that about 100 patients have been reported in the world. In this condition a liver enzyme (methylmalonyl CoA mutase) which should carry out one of many thousands of chemical processes that turn protein into energy or body ...
Firouzeh Sajedi
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Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency [PDF]
, 2020 National Cancer Institute
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Neuropsychiatric Disease and Treatment, 2019 Sheng-jun Wang, Chuan-zhu Yan, Bing Wen, Yu-ying Zhao Department of Neurology, Qilu Hospital, Shandong University, Jinan, China Objective: The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism.
Wang S, Yan C, Wen B, Zhao Y
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Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture [PDF]
, 2006 Guy Touati +10 more
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[Methylmalonic aciduria. A case report].
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1982 A Black girl aged 19 months presented with vomiting, dehydration and severe acidosis without apparent cause. Further investigation revealed urinary excretion of large amounts of methylmalonic acid. The literature on methylmalonic aciduria is briefly reviewed. Seven possible biochemical defects have been described.
J C, van Dyk +2 more
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Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]
, 2018 Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
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Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria [PDF]
, 2015 T. Ruppert +6 more
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