Detalhe da pesquisa
1.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Doc Ophthalmol
; 142(3): 371-380, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33392894
2.
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
J Inherit Metab Dis
; 43(3): 540-548, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816104
3.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
J Inherit Metab Dis
; 40(3): 415-422, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255778
4.
Neurocognitive profiles in MSUD school-age patients.
J Inherit Metab Dis
; 40(3): 377-383, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28324240
5.
Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
J Hepatol
; 65(2): 377-85, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27151179
6.
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Am J Hum Genet
; 93(2): 384-9, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23910460
7.
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
N Engl J Med
; 374(8): 795-7, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933868
8.
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.
J Inherit Metab Dis
; 36(5): 795-803, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23053472
9.
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.
Mol Genet Metab
; 106(1): 12-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22402328
10.
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Mol Genet Metab
; 107(1-2): 66-71, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22854512
11.
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
J Inherit Metab Dis
; 35(5): 823-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22167277
12.
Isolated remethylation disorders: do our treatments benefit patients?
J Inherit Metab Dis
; 34(1): 137-45, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20490923
13.
Should transcobalamin deficiency be treated aggressively?
J Inherit Metab Dis
; 33(3): 223-9, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20352340
14.
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
Mol Genet Metab
; 96(4): 196-200, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19167255
15.
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.
J Inherit Metab Dis
; 37(1): 137-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23807318
16.
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients.
Mol Genet Metab Rep
; 20: 100498, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31384561
17.
Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
Brain
; 130(Pt 6): 1516-24, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17439982
18.
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
Eur J Paediatr Neurol
; 21(6): 907-911, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801223
19.
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
Mol Genet Metab Rep
; 7: 8-10, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27331002
20.
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.
JIMD Rep
; 29: 109-113, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26920903