Detalhe da pesquisa
1.
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Genet Med
; : 101165, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38762772
2.
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
Am J Pathol
; 187(4): 864-883, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28342444
3.
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Hum Mol Genet
; 24(7): 1856-68, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25452429
4.
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.
Mol Genet Metab
; 107(3): 513-20, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022072
5.
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
J Hum Genet
; 55(1): 18-22, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19893582
6.
Intracerebral cell transplantation therapy for murine GM1 gangliosidosis.
Brain Dev
; 31(10): 717-24, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19118961
7.
The cortical contraction related to the ooplasmic segregation inCiona intestinalis eggs.
Wilehm Roux Arch Dev Biol
; 190(4): 208-214, 1981 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28305569
8.
Cortical contraction and ooplasmic movement in centrifuged or artificially constricted eggs ofCiona intestinalis.
Wilehm Roux Arch Dev Biol
; 193(3): 127-132, 1984 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28305453