Detalhe da pesquisa
1.
3-methylhistidine and clinical outcomes in maintenance haemodialysis patients.
Nephrol Dial Transplant
; 37(10): 1951-1961, 2022 09 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35234930
2.
Mass-spectrometry analysis of the human pineal proteome during night and day and in autism.
J Pineal Res
; 70(3): e12713, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33368564
3.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Hum Mutat
; 40(10): 1826-1840, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31116475
4.
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.
Clin Chem Lab Med
; 2024 Apr 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38581293
5.
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
J Inherit Metab Dis
; 41(3): 457-477, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29556840
6.
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
J Inherit Metab Dis
; 39(5): 611-624, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27393412
7.
MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.
Gastroenterology
; 156(5): 1525-1527.e4, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30582904
8.
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
BMC Med Genet
; 16: 77, 2015 Sep 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26329556
9.
Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder.
Hum Mol Genet
; 21(18): 4030-7, 2012 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22694957
10.
Phenotype and molecular characterization of Wilson's disease in Morocco.
Clin Res Hepatol Gastroenterol
; 48(5): 102335, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38588792
11.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Ann Clin Transl Neurol
; 2024 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38703036
12.
Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway.
J Pineal Res
; 54(1): 46-57, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22775292
13.
Impact of IDO activation and alterations in the kynurenine pathway on hyperserotonemia, NAD+ production, and AhR activation in autism spectrum disorder.
Transl Psychiatry
; 13(1): 380, 2023 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38071324
14.
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
Orphanet J Rare Dis
; 17(1): 434, 2022 12 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36514115
15.
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
BMC Med Genet
; 12: 17, 2011 Jan 20.
Artigo
Inglês
| MEDLINE | ID: mdl-21251267
16.
Production of soluble, active acetyl serotonin methyl transferase in Leishmania tarentolae.
Protein Expr Purif
; 75(1): 114-8, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20688166
17.
Dynamics in enzymatic protein complexes offer a novel principle for the regulation of melatonin synthesis in the human pineal gland.
J Pineal Res
; 51(1): 145-55, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21517958
18.
Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
J Pineal Res
; 51(4): 394-9, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21615493
19.
Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders.
Transl Psychiatry
; 11(1): 23, 2021 01 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33414449
20.
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Eur J Med Genet
; 64(10): 104305, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34400371