Detalhe da pesquisa
1.
Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.
Biol Blood Marrow Transplant
; 25(7): e226-e246, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30772512
2.
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.
Biol Blood Marrow Transplant
; 23(10): 1795-1803, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28673849
3.
Epidemiology of mucopolysaccharidoses.
Mol Genet Metab
; 121(3): 227-240, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595941
4.
Activity of daily living for Morquio A syndrome.
Mol Genet Metab
; 118(2): 111-22, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27161890
5.
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
6.
Therapies for the bone in mucopolysaccharidoses.
Mol Genet Metab
; 114(2): 94-109, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25537451
7.
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.
Mol Genet Metab
; 113(1-2): 92-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25092413
8.
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder.
Mol Genet Metab
; 109(3): 301-11, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23683769
9.
Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling.
Proc Natl Acad Sci U S A
; 106(25): 10260-5, 2009 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-19506249
10.
Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency.
Proc Natl Acad Sci U S A
; 106(6): 1880-5, 2009 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19164512
11.
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Epilepsia
; 51(12): 2397-405, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20887364
12.
Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy.
Pediatr Radiol
; 40 Suppl 1: S127-9, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20571791
13.
Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.
Tohoku J Exp Med
; 215(3): 227-36, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18648183
14.
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).
Expert Opin Orphan Drugs
; 5(4): 295-307, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29158997
15.
Current therapies for Morquio A syndrome and their clinical outcomes.
Expert Opin Orphan Drugs
; 4(9): 941-951, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28217429
16.
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB.
JIMD Rep
; 21: 1-13, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712379
17.
Changes of autonomic nervous system function in patients with breath-holding spells treated with iron.
J Child Neurol
; 17(5): 337-40, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12150579
18.
MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease.
Brain Dev
; 24(7): 723-6, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12427522
19.
Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome.
Mol Genet Metab Rep
; 1: 184-196, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25061571
20.
Growth charts for patients with Hunter syndrome.
Mol Genet Metab Rep
; 1: 5-18, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24955330