about
The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domainFoxl2 functions in sex determination and histogenesis throughout mouse ovary development.Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblastsLong-term neurological outcome of a cohort of 80 patients with classical organic acidurias.A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.Natural history of Barth syndrome: a national cohort study of 22 patients.Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patientsFunctional analysis of the NUP98-CCDC28A fusion protein.Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaAging of oocyte, ovary, and human reproduction.Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism.A Metabolic Study of Huntington's Disease.A driver role for GABA metabolism in controlling stem and proliferative cell state through GHB production in gliomaControversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Chris Ottolenghi
@ast
Chris Ottolenghi
@en
Chris Ottolenghi
@es
Chris Ottolenghi
@nl
Chris Ottolenghi
@sl
type
label
Chris Ottolenghi
@ast
Chris Ottolenghi
@en
Chris Ottolenghi
@es
Chris Ottolenghi
@nl
Chris Ottolenghi
@sl
prefLabel
Chris Ottolenghi
@ast
Chris Ottolenghi
@en
Chris Ottolenghi
@es
Chris Ottolenghi
@nl
Chris Ottolenghi
@sl
P1053
H-3745-2017
P106
P1153
7005986708
P31
P3829
P496
0000-0002-0734-344X
P569
2000-01-01T00:00:00Z