Detalhe da pesquisa
1.
Recent insights into peroxisome biogenesis and associated diseases.
J Cell Sci
; 133(9)2020 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393673
2.
Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
Doc Ophthalmol
; 140(1): 67-75, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31538292
3.
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Am J Hum Genet
; 97(3): 457-64, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26299366
4.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908836
5.
A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24months.
Blood Cells Mol Dis
; 59: 140-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27241455
6.
Hematopoietic stem cell transplantation for Morquio A syndrome.
Mol Genet Metab
; 117(2): 84-94, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26452513
7.
Activity of daily living for Morquio A syndrome.
Mol Genet Metab
; 118(2): 111-22, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27161890
8.
Human embryos commonly form abnormal nuclei during development: a mechanism of DNA damage, embryonic aneuploidy, and developmental arrest.
Hum Reprod
; 31(2): 312-23, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26621855
9.
Hematopoietic stem cell transplantation for inborn errors of metabolism: A report from the Research Committee on Transplantation for Inborn Errors of Metabolism of the Japanese Ministry of Health, Labour and Welfare and the Working Group of the Japan Society for Hematopoietic Cell Transplantation.
Pediatr Transplant
; 20(2): 203-14, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26806759
10.
Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation.
Mol Genet Metab
; 114(2): 161-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25468646
11.
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Mol Genet Metab
; 115(1): 41-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892708
12.
Therapies for the bone in mucopolysaccharidoses.
Mol Genet Metab
; 114(2): 94-109, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25537451
13.
Consequence of climate mitigation on the risk of hunger.
Environ Sci Technol
; 49(12): 7245-53, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25982947
14.
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
J Obstet Gynaecol Res
; 41(7): 1126-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655073
15.
Climate change impact and adaptation assessment on food consumption utilizing a new scenario framework.
Environ Sci Technol
; 48(1): 438-45, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24304005
16.
Tidal volume and airway pressure under percutaneous transtracheal ventilation without a jet ventilator: comparison of high-flow oxygen ventilation and manual ventilation in complete and incomplete upper airway obstruction models.
J Anesth
; 28(3): 341-6, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24212332
17.
Organ size is limited by the number of embryonic progenitor cells in the pancreas but not the liver.
Nature
; 445(7130): 886-91, 2007 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-17259975
18.
Molecular Genetic Testing Approaches for Retinitis Pigmentosa.
Methods Mol Biol
; 2560: 41-66, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481882
19.
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Mol Genet Metab
; 107(1-2): 136-44, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22864057
20.
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