A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vomiting, was sub-febrile and hypoglycemic, fell into coma, developed seizures and sequels inv...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Dessein, Anne-Frédérique, Fontaine, Monique, Andresen, Brage S, Gregersen, Niels, Brivet, Michèle, Rabier, Daniel, Napuri-Gouel, Silvia, Dobbelaere, Dries, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Briand, Gilbert, Millington, David S, Vianey-Saban, Christine, Wanders, Ronald JA, Vamecq, Joseph
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2967532/
https://ncbi.nlm.nih.gov/pubmed/20923556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-5-26
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky