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1.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Am J Hum Genet
; 102(2): 266-277, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29395073
2.
A low level of CD16pos monocytes in SARS-CoV-2 infected patients is a marker of severity.
Clin Chem Lab Med
; 59(7): 1315-1322, 2021 Jun 25.
Article
in English
| MEDLINE | ID: mdl-33606928
3.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Article
in English
| MEDLINE | ID: mdl-28757203
4.
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Mol Genet Metab
; 130(2): 110-117, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32273051
5.
Autism spectrum disorders in propionic acidemia patients.
J Inherit Metab Dis
; 41(4): 623-629, 2018 07.
Article
in English
| MEDLINE | ID: mdl-28856627
6.
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
J Inherit Metab Dis
; 40(6): 783-792, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28905140
7.
Neurocognitive profiles in MSUD school-age patients.
J Inherit Metab Dis
; 40(3): 377-383, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28324240
8.
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
PLoS Genet
; 10(11): e1004711, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25392908
9.
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
J Inherit Metab Dis
; 39(1): 47-58, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26109258
10.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Brain
; 138(Pt 8): 2191-205, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26026163
11.
Acute rhabdomyolysis and inflammation.
J Inherit Metab Dis
; 38(4): 621-8, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25778939
12.
Detection of monoclonal B-lymphocytosis: interest of cellular population data and CytoDiff™ analysis.
Clin Chem Lab Med
; 58(3): e83-e86, 2020 02 25.
Article
in English
| MEDLINE | ID: mdl-31605577
13.
Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect.
J Neurol Neurosurg Psychiatry
; 90(11): 1291-1293, 2019 11.
Article
in English
| MEDLINE | ID: mdl-30948626
14.
Prognostic value of cellular population data in patients with COVID-19.
Inform Med Unlocked
; 38: 101207, 2023.
Article
in English
| MEDLINE | ID: mdl-36919041
15.
Can Haematological Parameters Discriminate COVID-19 from Influenza?
J Clin Med
; 13(1)2023 Dec 28.
Article
in English
| MEDLINE | ID: mdl-38202193
16.
Interest of the cellular population data analysis as an aid in the early diagnosis of SARS-CoV-2 infection.
Int J Lab Hematol
; 43(1): 116-122, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-32812365
17.
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
Cancer Res
; 78(8): 1914-1922, 2018 04 15.
Article
in English
| MEDLINE | ID: mdl-29431636
18.
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation.
Clin Chim Acta
; 470: 70-74, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28457853
19.
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.
Orphanet J Rare Dis
; 12(1): 160, 2017 10 02.
Article
in English
| MEDLINE | ID: mdl-28969699
20.
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Orphanet J Rare Dis
; 12(1): 3, 2017 01 05.
Article
in English
| MEDLINE | ID: mdl-28057010