[HTML][HTML] Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

A Brassier, S Gobin, JB Arnoux… - Orphanet journal of rare …, 2015 - Springer
Background The principal aim of this study was to investigate the long-term outcomes of a
large cohort of patients with ornithine transcarbamylase deficiency (OTCD) who were …

Acute rhabdomyolysis and inflammation

Y Hamel, A Mamoune, FX Mauvais, F Habarou… - Journal of inherited …, 2015 - Springer
Rhabdomyolysis results from the rapid breakdown of skeletal muscle fibers, which leads to
leakage of potentially toxic cellular content into the systemic circulation. Acquired causes by …

Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas

A Buffet, A Morin, LJ Castro-Vega, F Habarou… - Cancer Research, 2018 - AACR
Comprehensive genetic analyses have identified germline SDHB and FH gene mutations as
predominant causes of metastatic paraganglioma and pheochromocytoma. However, some …

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

M Coutelier, C Goizet, A Durr, F Habarou, S Morais… - Brain, 2015 - academic.oup.com
Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by
a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited …

[HTML][HTML] Update on lysinuric protein intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood

W Mauhin, F Habarou, S Gobin, A Servais… - Orphanet journal of rare …, 2017 - Springer
Background Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from
recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids …

[HTML][HTML] Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

M Nizon, C Ottolenghi, V Valayannopoulos… - Orphanet journal of rare …, 2013 - Springer
Background Classical organic acidurias including methylmalonic aciduria (MMA), propionic
aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of …

[PDF][PDF] Impaired transferrin receptor palmitoylation and recycling in neurodegeneration with brain iron accumulation

A Drecourt, J Babdor, M Dussiot, F Petit… - The American Journal of …, 2018 - cell.com
Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous
condition characterized by progressive dystonia with iron accumulation in the basal ganglia …

[HTML][HTML] Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Y Soreze, A Boutron, F Habarou, C Barnerias… - Orphanet journal of rare …, 2013 - Springer
Background Synthesis and apoenzyme attachment of lipoic acid have emerged as a new
complex metabolic pathway. Mutations in several genes involved in the lipoic acid de novo …

[HTML][HTML] The environmental carcinogen benzo [a] pyrene induces a Warburg-like metabolic reprogramming dependent on NHE1 and associated with cell survival

K Hardonnière, E Saunier, A Lemarié, M Fernier… - Scientific reports, 2016 - nature.com
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 …

[PDF][PDF] Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy

F Habarou, Y Hamel, TB Haack, RG Feichtinger… - The American Journal of …, 2017 - cell.com
Lipoate serves as a cofactor for the glycine cleavage system (GCS) and four 2-oxoacid
dehydrogenases functioning in energy metabolism (α-oxoglutarate dehydrogenase [α …