Detalhe da pesquisa
1.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis
; 46(2): 326-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719165
2.
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Am J Hum Genet
; 104(5): 936-947, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982608
3.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044030
4.
Influence of enteral feeding and anemia on tissue oxygen extraction after red blood cell transfusion in preterm infants.
Transfusion
; 60(3): 466-472, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31984520
5.
Factor VIII and vWF deficiency in STT3A-CDG.
J Inherit Metab Dis
; 42(2): 325-332, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30701557
6.
Novel pregnancy-triggered episodes of CAPOS syndrome.
Am J Med Genet A
; 176(1): 235-240, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29090527
7.
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
Am J Med Genet A
; 176(7): 1675-1679, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160829
8.
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Pediatr Nephrol
; 33(7): 1257-1261, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637272
9.
Distribution of cervical intraepithelial neoplasia on the cervix in Chinese women: pooled analysis of 19 population based screening studies.
BMC Cancer
; 15: 485, 2015 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26122004
10.
Multivitamin and mineral supplementation is associated with the reduction of fracture risk and hospitalization rate in Chinese adult males: a randomized controlled study.
J Bone Miner Metab
; 33(3): 294-302, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24849736
11.
Regulation of synaptic transmission at the photoreceptor terminal: a novel role for the cation-chloride co-transporter NKCC1.
J Physiol
; 591(1): 133-47, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23090945
12.
Effect of an educational intervention on HPV knowledge and vaccine attitudes among urban employed women and female undergraduate students in China: a cross-sectional study.
BMC Public Health
; 13: 916, 2013 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088392
13.
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
JPEN J Parenter Enteral Nutr
; 45(2): 230-238, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085788
14.
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
JIMD Rep
; 60(1): 67-74, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258142
15.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
JAMA Neurol
; 78(10): 1236-1248, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34459874
16.
Pharmacokinetics of oral l-serine supplementation in a single patient.
Mol Genet Metab Rep
; 24: 100607, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32489882
17.
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Mol Genet Genomic Med
; 8(4): e1172, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32067425
18.
Congenital disorders of glycosylation.
Ann Transl Med
; 6(24): 477, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740408
19.
Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.
Front Immunol
; 9: 2756, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564228
20.
The genetics of Wilson disease.
Handb Clin Neurol
; 142: 19-34, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28433102