Results 71 to 80 of about 8,189 (189)

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)

, 2009
An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B(12) presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but
A. Rötig, A. S. Lebre, Kaplan, J., de Keyzer, Y., J. B. Arnoux, Valayannopoulos, V., Fakhouri, F., A. Munnich, de Lonlay, P., F. Fakhouri, Benoist, J. F., Romano, S., J. Kaplan, D. Chrétien, Rotig, A., S. Romano, D. Rabier, Lebre, A. S., Munnich, A., V. Valayannopoulos, Rabier, D., J. F. Benoist, P. de Lonlay, Y. de Keyzer, Arnoux, J. B., Chretien, D., L. Hubert, Hubert, L.   +27 more
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N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria

, 2009
In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems. Hyperammonemia is a true neonatal emergency with high mortality and neurological complications in most ...
Gozzini E., La Marca G., Filippi L., Malvagia S., Donati M. A., Fiorini P., Luca Filippi, Maria Alice Donati, Patrizio Fiorini, Elena Gozzini, Sabrina Malvagia, Giancarlo la Marca   +11 more
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SAXS fingerprints of aldehyde dehydrogenase oligomers

Data in Brief, 2015
Enzymes of the aldehyde dehydrogenase (ALDH) superfamily catalyze the nicotinamide adenine dinucleotide-dependent oxidation of aldehydes to carboxylic acids.
John J. Tanner
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A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

Molecular Genetics and Metabolism Reports
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene.
Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou   +11 more
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Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos   +4 more
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Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

, 2009
Contains fulltext : 80951.pdf (Publisher’s version ) (Closed access)The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria ...
Okun, J.G., Niklowitz, P., T. Menke, Rodenburg, R.J.T., Horster, F., Baumgartner, E.R., G. F. Hoffmann, Haas, D., D. Haas, Hoffmann, G.F., Menke, T., P. Niklowitz, E. R. Baumgartner, Prasad, C., F. Hörster, C. Prasad, R. J. Rodenburg, J. G. Okun   +17 more
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Novel mouse models of methylmalonic aciduria recapitulate phenotypic traits with a genetic dosage effect [PDF]

, 2016
Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually presents in the newborn period with failure to thrive and metabolic crisis leading to coma or even death.
Mathis, Déborah, Froese, D Sean; https://orcid.org/, Peters, Heidi L., Langhans, Claus-Dieter, Burda, Patricie, Thony, Beat; https://orcid.org/, Froese, D. Sean, Peters, Heidi L, Hornemann, Thorsten, Mustedanagic, Merima, Devuyst, Olivier, Heeren, Joerg, Wulf, Marie-Angela, Baumgartner, Matthias R; https://orcid.org/, Thony, Beat, Froese, D Sean, Baumgartner, Matthias R., Scheja, Ludger, Zhakupova, Assem, Forny, Patrick; https://orcid.org/, Schumann, Anke, Fingerhut, Ralph, Kölker, Stefan, Forny, Patrick, Nägele, Nadine, Devuyst O, Scheja L, Thony B, Peters HL, Mathis D, Heeren J, Fingerhut R, Baumgartner MR, Hornemann T, Schumann A, Nägele N, Froese DS, Wulf MA, Kölker S, Zhakupova A, Burda P, Forny P, Mustedanagic M, Langhans CD   +43 more
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Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2018
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment
Kejian Guo, Xuan Zhou, Xuan Zhou, Xigui Chen, Yili Wu, Yili Wu, Yili Wu, Chuanxin Liu, Chuanxin Liu, Qingsheng Kong, Qingsheng Kong   +10 more
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An on-line solid phase extraction procedure for the routine quantification of urinary methylmalonic acid by liquid chromatography-tandem mass spectrometry [PDF]

, 2010
Background: The goal of this study was to develop and to validate an improved isotope-dilution-liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the quantification of methylmalonic acid (MMA) in urine.
Michael Vogeser, Lorenzl, Stephan, Stephan Lorenzl, Fabian Kirchhoff, Vogeser, Michael, Kirchhoff, Fabian   +5 more
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Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation

The Turkish Journal of Pediatrics, 2013
Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation.
Mustafa Kılıç, Rıza Köksal Özgül, Ali Dursun, Ayşegül Tokatlı, Hatice Serap Kalkanoğlu-Sivri, Banu Anlar, Brian Fowler, Turgay Coşkun   +7 more
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