Detalhe da pesquisa
1.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
J Med Genet
; 61(3): 212-223, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788905
2.
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Genet Med
; 23(11): 2067-2075, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257421
3.
Noninvasive screening for congenital heart defects using a serum metabolomics approach.
Prenat Diagn
; 41(6): 743-753, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33440021
4.
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation.
Biomed Chromatogr
; 34(2): e4735, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691999
5.
A metabolomics-based approach for non-invasive screening of fetal central nervous system anomalies.
Metabolomics
; 14(6): 77, 2018 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30830338
6.
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Hum Genet
; 136(4): 409-420, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213671
7.
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
Mol Genet Metab
; 122(1-2): 126-134, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28641925
8.
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
Am J Med Genet A
; 170(9): 2383-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27311559
9.
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9.
Am J Hum Genet
; 100(5): 837, 2017 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475864
10.
Mutation update for GNE gene variants associated with GNE myopathy.
Hum Mutat
; 35(8): 915-26, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24796702
11.
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Am J Hum Genet
; 88(6): 778-787, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21665000
12.
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Bone
; 186: 117136, 2024 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38806089
13.
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Development
; 137(15): 2587-96, 2010 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20627962
14.
The Gne M712T mouse as a model for human glomerulopathy.
Am J Pathol
; 180(4): 1431-40, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22322304
15.
Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.
Glycoconj J
; 30(6): 609-18, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23266873
16.
Effects of microcurrent stimulation on hyaline cartilage repair in immature male rats (Rattus norvegicus).
BMC Complement Altern Med
; 13: 17, 2013 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23331612
17.
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Front Genet
; 14: 1072784, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36968585
18.
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Mol Genet Metab
; 107(4): 748-55, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122659
19.
Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.
Biochemistry
; 50(41): 8914-25, 2011 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910480
20.
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
J Clin Invest
; 117(6): 1585-94, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17549255