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M.F. Robert
Observed names:
M -F. Robert,
M F Robert,
M.-F. Robert
Institution:
Centre Hospitalier Universitaire Sainte-Justine
Observed institutions:
Boston Children's Hospital,
Howard Hughes Medical Institute,
Harvard University,
Johns Hopkins University,
Medical College of Wisconsin,
Hospital for Sick Children,
Centre Hospitalier Universitaire Sainte-Justine,
Yale University,
CHU Sainte-Justine Research Center
show all 9
OpenAlex ID:
A5111089908
Medical aspects of ketone body metabolism.
1995
·
G A Mitchell
, S Kassovska-Bratinova
, et al.
·
PubMed
·
263
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
1992
·
L.C. Brody
, G.A. Mitchell
, et al.
·
Journal of Biological Chemistry
·
117
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.
1996
·
S Kassovska-Bratinova
, T Fukao
, et al.
·
PubMed
·
59
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.
1993
·
G.A. Mitchell
, M.F. Robert
, et al.
·
Journal of Biological Chemistry
·
58
Hormone-sensitive lipase (Lipe): Sequence analysis of the 129Sv mouse Lipe gene
1997
·
R. Sztrolovics
, S. P. Wang
, et al.
·
Mammalian Genome
·
19
Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis.
1979
·
M F Robert
, D J Schultz
, et al.
·
Archives of Disease in Childhood
·
16
PDF
Inborn errors of ketogenesis
1998
·
G. A. Mitchell
, S. P. Wang
, et al.
·
Biochemical Society Transactions
·
8
HMG CoA Lyase (HL): Mutation detection and development of a bacterial expression system for screening the activity of mutant alleles from HL-deficient patients
1994
·
M.F. Robert
, L.I. Ashmarina
, et al.
·
The American Journal of Human Genetics
HMG-CoA lyase (HL) gene: Cloning and characterization of the 5{prime} end of the mouse gene, gene targeting in ES cells, and demonstration of large deletions in three HL-deficient patients
1994
·
S. Wang
, M.F. Robert
, et al.
·
The American Journal of Human Genetics
Mitochondrial HMG to CoA synthase (mHS): cDNA cloning in human, mouse and C. elegans, mapping to human chromosome 1p12-13 and partial human genomic cloning
1994
·
Youssef Boukaftane
, M.F. Robert
, et al.
·
The American Journal of Human Genetics
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Works count:
10
Citation count:
540
H-index:
7
I10-index:
6
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