Lanean...

Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases

The cblC defect is the most common inborn error of cobalamin (Cbl) metabolism. Clinical severity and presentation of the cblC defect ranges from death to mild disability. Only 71 cases of late-onset cblC defect have been described in the literature. We provide the 41-year follow up of two siblings w...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ther Adv Neurol Disord
Egile Nagusiak: Motte, Jeremias, Kneiphof, Janina, Straßburger-Krogias, Katrin, Pitarokoili, Kalliopi, Fisse, Anna Lena, Kappos, Ludwig, Gold, Ralf
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: SAGE Publications 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6710698/
https://ncbi.nlm.nih.gov/pubmed/31489032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1756286419872115
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!