D Rabier
Overview
Explore the profile of D Rabier including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
157
Citations
1533
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Gerard M, Morin G, Bourillon A, Colson C, Mathieu S, Rabier D, et al.
Eur J Med Genet
. 2015 Jan;
58(3):148-53.
PMID: 25595573
The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations of the HCFC1 gene explain the majority...
2.
Rabier D, Kamoun P
Amino Acids
. 2013 Nov;
9(4):299-316.
PMID: 24178879
Citrulline is a non protein amino acid involved in three important metabolic pathways, the intrahepatic transformation of ammonia to urea, the de novo synthesis of arginine from glutamine in gut...
3.
Brassier A, Boyer O, Valayannopoulos V, Ottolenghi C, Krug P, Cosson M, et al.
Mol Genet Metab
. 2013 Jun;
110(1-2):106-10.
PMID: 23751327
Introduction: Patients with methylmalonic acidemia (MMA) may develop many complications despite medical treatment, in particular, severe central nervous system damage and chronic kidney disease (CKD). A kidney transplant may partially...
4.
Barth M, Serre V, Hubert L, Chaabouni Y, Bahi-Buisson N, Cadoudal M, et al.
JIMD Rep
. 2013 Feb;
3:25-32.
PMID: 23430870
Background: Aromatic amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder resulting in a combined dopamine and serotonin deficiency. About 50% of the cases set in the neonatal...
5.
Servais A, Arnoux J, Lamy C, Hummel A, Vittoz N, Katerinis I, et al.
J Inherit Metab Dis
. 2012 Dec;
36(6):939-44.
PMID: 23250513
Background: Acute decompensation of maple syrup urine disease (MSUD) is usually treated by enteral feeding with an amino-acid mixture without leucine (Leu), valine or isoleucine. However, its administration is ineffective...
6.
Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, Ogier de Baulny H, Guffon N, et al.
Mol Genet Metab
. 2011 May;
103(4):341-8.
PMID: 21549624
Background: Deficiency of mitochondrial trifunctional protein (MTP) is caused by mutations in the HADHA and HADHB genes, which have been mostly delineated at the genomic DNA level and have not...
7.
Ottolenghi C, Abermil N, Lescoat A, Aupetit J, Beaugendre O, Morichon-Delvallez N, et al.
Prenat Diagn
. 2009 Dec;
30(1):43-8.
PMID: 19950217
Background: Normative data for amniotic fluid (AF) levels of organic acids at different gestational ages are lacking. They can provide a useful framework to investigate the accuracy of prenatal diagnosis...
8.
Cosson M, Benoist J, Touati G, Dechaux M, Royer N, Grandin L, et al.
Mol Genet Metab
. 2009 Apr;
97(3):172-8.
PMID: 19375370
Objective: To better delineate the natural history of patients with methylmalonic aciduria (MMA). Study Design: Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end...
9.
Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, et al.
Mol Genet Metab
. 2009 Apr;
97(2):109-13.
PMID: 19345633
Aims: Ornithine delta-aminotransferase (OAT) deficiency causes gyrate atrophy (GA) of the retina, as a consequence of high plasma ornithine concentrations. Because creatine synthesis requires the conversion of arginine and glycine...
10.
Valayannopoulos V, Hubert L, Benoist J, Romano S, Arnoux J, Chretien D, et al.
J Inherit Metab Dis
. 2009 Mar;
32(2):159-62.
PMID: 19277894
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...