Detalhe da pesquisa
1.
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
J Med Genet
; 61(1): 8-17, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316190
2.
[Research progress on the prognosis of patients with various types of Methylmalonic acidemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(7): 892-895, 2023 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37368397
3.
Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 51(3): 298-305, 2022 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207831
4.
Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 436-443, 2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704411
5.
[Neuroimaging diagnosis and therapeutic efficacy of different surgical methods of gliomatosis cerebri].
Zhonghua Yi Xue Za Zhi
; 94(21): 1639-42, 2014 Jun 03.
Artigo
em Zh
| MEDLINE | ID: mdl-25152287
6.
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.
Orphanet J Rare Dis
; 18(1): 48, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890565
7.
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Orphanet J Rare Dis
; 18(1): 306, 2023 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37770946
8.
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
World J Pediatr
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070096
9.
Prediction of Higher Ki-67 Index in Pituitary Adenomas by Pre- and Intra-Operative Clinical Characteristics.
Brain Sci
; 12(8)2022 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36009065
10.
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.
Front Genet
; 13: 805599, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242167
11.
Somatic SF3B1 hotspot mutation in prolactinomas.
Nat Commun
; 11(1): 2506, 2020 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427851
12.
Primary Meningeal Melanocytoma in Sellar Region, Simulating a Nonfunctioning Pituitary Adenoma: Case Report and Literature Review.
World Neurosurg
; 112: 209-213, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29382618
13.
Early cranioplasty vs. late cranioplasty for the treatment of cranial defect: A systematic review.
Clin Neurol Neurosurg
; 136: 33-40, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26056810
14.
Neuronavigation-assisted endoscopic unilateral cyst fenestration for treatment of symptomatic septum pellucidum cysts.
J Neurol Surg A Cent Eur Neurosurg
; 74(4): 209-15, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636910