Detalhe da pesquisa
1.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
J Inherit Metab Dis
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069502
2.
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria.
Ophthalmic Genet
; : 1-8, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38629455
3.
Novel findings in a Swedish primary familial brain calcification cohort.
J Neurol Sci
; 460: 123020, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642488
4.
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.
NPJ Parkinsons Dis
; 10(1): 93, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684669
5.
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease.
Ophthalmic Genet
; 43(6): 841-849, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36325813
6.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
7.
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.
J Med Case Rep
; 12(1): 274, 2018 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30243302
8.
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
J Clin Endocrinol Metab
; 92(8): 3305-13, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17504899
9.
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.
Autoimmunity
; 50(4): 223-231, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28557628
10.
Transcriptional profiling of genes induced in the livers of patients treated with carbamazepine.
Clin Pharmacol Ther
; 80(5): 440-456, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17112801
11.
[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving]. / Ärftliga metabola sjukdomar med symtomdebut i vuxen ålder - Tidig och korrekt behandling vid akuta symtom kan vara livräddande.
Lakartidningen
; 1132016 Feb 01.
Artigo
em Sueco
| MEDLINE | ID: mdl-26835685
12.
A nicotine C-oxidase gene (CYP2A6) polymorphism important for promoter activity.
Hum Mutat
; 23(3): 258-66, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14974084
13.
Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity.
Hum Mutat
; 20(4): 275-83, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12325023
14.
Polymorphic NF-Y dependent regulation of human nicotine C-oxidase (CYP2A6).
Pharmacogenetics
; 14(6): 369-79, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15247629
15.
CYPalleles: a web page for nomenclature of human cytochrome P450 alleles.
Drug Metab Pharmacokinet
; 17(6): 491-5, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-15618703
16.
Human CYP allele database: submission criteria procedures and objectives.
Methods Enzymol
; 357: 28-36, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12424894
17.
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
Eur J Hum Genet
; 17(11): 1439-47, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19417767
18.
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.
Clin Endocrinol (Oxf)
; 66(6): 822-6, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17408421
19.
Effects of rifampicin on global gene expression in human small intestine.
Pharmacogenet Genomics
; 17(11): 907-18, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18075461
20.
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1.
Proc Natl Acad Sci U S A
; 104(3): 949-54, 2007 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-17215373