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1.
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Pediatr Nephrol
; 2024 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38589698
2.
Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 51(3): 314-320, 2022 06 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-36207837
3.
Molecular diagnosis of maturity-onset diabetes of the young in a cohort of Chinese children.
Pediatr Diabetes
; 21(3): 431-440, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31957151
4.
[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(8): 775-9, 2015 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-26287337
5.
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
Orphanet J Rare Dis
; 19(1): 198, 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38750596
6.
[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
Zhongguo Dang Dai Er Ke Za Zhi
; 15(8): 661-5, 2013 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-23965881
7.
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.
Front Genet
; 14: 1085210, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37025457
8.
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
J Pediatr Endocrinol Metab
; 36(1): 74-80, 2023 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36433712
9.
Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China.
Diabetol Metab Syndr
; 14(1): 43, 2022 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35313968
10.
Incidence tendency, etiological classification and outcome of congenital hypothyroidism in Guangzhou, China: an 11-year retrospective population-based study.
J Pediatr Endocrinol Metab
; 35(9): 1141-1146, 2022 Sep 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36039549
11.
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.
Front Pediatr
; 10: 1007219, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36405822
12.
Establishment of reference range of plasma amino acids for younger Chinese children by reverse phase HPLC.
J Pediatr Endocrinol Metab
; 24(9-10): 733-8, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22145465
13.
Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.
BMJ Open Diabetes Res Care
; 8(1)2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32792356
14.
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
Clin Biochem
; 84: 63-72, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32569589
15.
[Complex glycerol kinase deficiency in three children].
Zhongguo Dang Dai Er Ke Za Zhi
; 9(5): 441-4, 2007 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-17937854
16.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
J Pediatr Endocrinol Metab
; 28(3-4): 375-80, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25781538
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