Schiff M, Haberberger B, Xia C, Mohsen A, Goetzman E, Wang Y, et al
. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet. 2015;24:3238-47 pubmed publisher
..Accordingly, treatment of ACAD9 patients should aim at counteracting both CI and fatty acid oxidation dysfunctions. ..
Schiff M, Benoist J, Tilea B, Royer N, Giraudier S, Ogier de Baulny H. Isolated remethylation disorders: do our treatments benefit patients?. J Inherit Metab Dis. 2011;34:137-45 pubmed publisher
..In contrast, most late-treated patients have severe and irreversible neuromotor impairments. Hematological abnormalities are easily corrected. ..
Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat S, et al
. Should transcobalamin deficiency be treated aggressively?. J Inherit Metab Dis. 2010;33:223-9 pubmed publisher
..In silico structural analysis showed that these mutations disrupt the Cbl-TC interaction domain and/or the putative transcobalamin-transcobalamin receptor interaction domain. ..
Schiff M, Mine M, Brivet M, Marsac C, Elmaleh Berges M, Evrard P, et al
. Leigh's disease due to a new mutation in the PDHX gene. Ann Neurol. 2006;59:709-14 pubmed
..These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene. ..
Schiff M, Benoist J, Cardoso M, Elmaleh Berges M, Forey P, Santiago J, et al
. Early-onset hyperargininaemia: a severe disorder?. J Inherit Metab Dis. 2009;32 Suppl 1:S175-8 pubmed publisher
..Despite appropriate but delayed treatment, our patient exhibited severe psychomotor delay at age 1 year...
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, et al
. Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines. J Inherit Metab Dis. 2012;35:823-9 pubmed publisher
..In an attempt to improve long-term management and outcome of patients with HT-1, we proposed follow-up recommendations. ..