Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Background The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. Methods Information on clinical and laboratory da...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2015-09, Vol.38 (5), p.957-967
Hauptverfasser:	Huemer, M., Bürer, C., Ješina, P., Kožich, V., Landolt, M. A., Suormala, T., Fowler, B., Augoustides- Savvopoulou, P., Blair, E., Brennerova, K., Broomfield, A., De Meirleir, L., Gökcay, G., Hennermann, J., Jardine, P., Koch, J., Lorenzl, S., Lotz-Havla, A. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M., Baumgartner, M. R.
Format:	Artikel
Sprache:	eng
Schlagworte:	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - deficiency 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - genetics 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - metabolism Adolescent Age of Onset Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - therapy Biochemistry Cells, Cultured Child Child, Preschool Disease Progression Female Ferredoxin-NADP Reductase - deficiency Ferredoxin-NADP Reductase - genetics Ferredoxin-NADP Reductase - metabolism Human Genetics Humans Infant Infant, Newborn Internal Medicine Male Medicine Medicine & Public Health Metabolic Diseases Methylation Original Article Pediatrics Pregnancy Retrospective Studies Treatment Outcome Vitamin B 12 - metabolism Young Adult
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!