Detalhe da pesquisa
1.
Newborn screening of mucopolysaccharidoses: past, present, and future.
J Hum Genet
; 65(7): 557-567, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277174
2.
Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.
Int J Mol Sci
; 21(6)2020 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32188102
3.
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
4.
Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future.
J Hum Genet
; 64(11): 1153-1171, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31455839
5.
Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.
Mol Genet Metab
; 125(1-2): 44-52, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779903
6.
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Mol Genet Metab
; 125(1-2): 18-37, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779902
7.
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
8.
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
J Clin Immunol
; 37(6): 529-538, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28702714
9.
Epidemiology of mucopolysaccharidoses.
Mol Genet Metab
; 121(3): 227-240, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595941
10.
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.
Mol Genet Metab
; 120(3): 247-254, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065440
11.
Activity of daily living for Morquio A syndrome.
Mol Genet Metab
; 118(2): 111-22, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27161890
12.
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
13.
Therapies for the bone in mucopolysaccharidoses.
Mol Genet Metab
; 114(2): 94-109, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25537451
14.
A complement factor B mutation in a large kindred with atypical hemolytic uremic syndrome.
J Clin Immunol
; 34(6): 691-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906628
15.
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
16.
Ketone body metabolism and its defects.
J Inherit Metab Dis
; 37(4): 541-51, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706027
17.
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
18.
Total IgE at 6 months predicts remittance or persistence of atopic dermatitis at 14 months.
Allergy Asthma Proc
; 34(4): 362-369, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23883601
19.
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
20.
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