Detalhe da pesquisa
1.
Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis.
Mol Genet Metab
; 135(4): 309-310, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216886
2.
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
Am J Hum Genet
; 87(4): 553-9, 2010 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20887961
3.
Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.
J Neurosurg Pediatr
; 31(6): 584-592, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905673
4.
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
J Med Genet
; 48(9): 602-5, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21785126
5.
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Hum Mutat
; 31(8): 924-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20524213
6.
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Hum Mutat
; 30(7): 1072-81, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19370762
7.
Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.
Mol Genet Metab
; 96(4): 261-7, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19200761
8.
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.
JIMD Rep
; 31: 57-62, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27074787