Florence Habarou
Overview
Explore the profile of Florence Habarou including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
26
Citations
536
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0
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Recent Articles
11.
Abi-Warde M, Roda C, Arnoux J, Servais A, Habarou F, Brassier A, et al.
J Inherit Metab Dis
. 2017 Sep;
40(6):783-792.
PMID: 28905140
Background: Maple syrup urine disease (MSUD) is a rare disease that requires a protein-restricted diet for successful management. Little is known, however, about the psychosocial outcome of MSUD patients. This...
12.
de la Batie C, Barbier V, Roda C, Brassier A, Arnoux J, Valayannopoulos V, et al.
J Inherit Metab Dis
. 2017 Sep;
41(4):623-629.
PMID: 28856627
Propionic acidemia is the result of a deficiency in propionyl-CoA carboxylase activity. Chronic neurologic and cognitive complications frequently occur, but the psychiatric evolution of the disorder is not well documented....
13.
Habarou F, Hamel Y, Haack T, Feichtinger R, Lebigot E, Marquardt I, et al.
Am J Hum Genet
. 2017 Aug;
101(2):283-290.
PMID: 28757203
Lipoate serves as a cofactor for the glycine cleavage system (GCS) and four 2-oxoacid dehydrogenases functioning in energy metabolism (α-oxoglutarate dehydrogenase [α-KGDHc] and pyruvate dehydrogenase [PDHc]), or amino acid metabolism...
14.
Bruneel A, Habarou F, Stojkovic T, Plouviez G, Bougas L, Guillemet F, et al.
Clin Chim Acta
. 2017 May;
470:70-74.
PMID: 28457853
Congenital disorders of glycosylation (CDGs) are rare inherited disorders affecting glycosylation of proteins and lipids and sharing very heterogeneous multivisceral symptoms. The biochemical screening of these diseases is currently limited...
15.
Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist J, Abi Warde M, et al.
J Inherit Metab Dis
. 2017 Mar;
40(3):377-383.
PMID: 28324240
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact...
16.
Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, et al.
Orphanet J Rare Dis
. 2017 Jan;
12(1):3.
PMID: 28057010
Background: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit yLAT1. The disease is characterised by...
17.
Hardonniere K, Saunier E, Lemarie A, Fernier M, Gallais I, Helies-Toussaint C, et al.
Sci Rep
. 2016 Aug;
6:30776.
PMID: 27488617
Cancer cells display alterations in many cellular processes. One core hallmark of cancer is the Warburg effect which is a glycolytic reprogramming that allows cells to survive and proliferate. Although...
18.
Pontoizeau C, Habarou F, Brassier A, Veauville-Merllie A, Grisel C, Arnoux J, et al.
JIMD Rep
. 2015 Sep;
27:39-45.
PMID: 26409463
Classical neonatal-onset glutaric aciduria type 2 (MAD deficiency) is a severe disorder of mitochondrial fatty acid oxidation associated with poor survival. Secondary dysfunction of acyl-CoA dehydrogenases may result from deficiency...
19.
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate
Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist J, et al.
J Inherit Metab Dis
. 2015 Jun;
39(1):47-58.
PMID: 26109258
Mitochondrial trifunctional protein (MTP) deficiency caused by HADHA or HADHB gene mutations exhibits substantial molecular, biochemical, and clinical heterogeneity and ranks among the more severe fatty acid oxidation (FAO) disorders,...
20.
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, et al.
Brain
. 2015 May;
138(Pt 8):2191-205.
PMID: 26026163
Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement also occurs in patients with an autosomal...