Detalhe da pesquisa
1.
Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.
BMC Pediatr
; 23(1): 644, 2023 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38114927
2.
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Mol Genet Metab
; 136(1): 4-21, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35367141
3.
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Genet Med
; 23(5): 845-855, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495531
4.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
5.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
6.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
7.
Brugada syndrome & AKAP9: Reconciling clinical findings with diagnostic uncertainty.
J Electrocardiol
; 57: 119-121, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31654968
8.
Orphan drug development.
Pediatr Endocrinol Rev
; 11 Suppl 1: 64-7, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24380124
9.
Providing the conduit for treatment: The impact of vascular access and vein preservation in a 5-year-old child with prenatally diagnosed CRIM-negative Infantile Pompe disease.
J Vasc Access
; : 1129729821999486, 2021 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673749
10.
A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.
Front Immunol
; 11: 1929, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33013846
11.
Pharmacological treatment of pediatric Gaucher disease.
Expert Rev Clin Pharmacol
; 11(12): 1183-1194, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30444430
12.
Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease.
Pediatric Health Med Ther
; 8: 73-81, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388611
13.
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
JCI Insight
; 2(16)2017 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28814660
14.
Association between neurovascular contact on MRI and response to gamma knife radiosurgery in trigeminal neuralgia.
Neuroradiology
; 48(1): 26-30, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16237547
15.
Nerve atrophy in severe trigeminal neuralgia: noninvasive confirmation at MR imaging--initial experience.
Radiology
; 238(2): 689-92, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16436823
16.
The growing teratoma syndrome.
Pediatr Radiol
; 34(3): 259-62, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14551755
17.
The Golden S sign.
Radiology
; 233(3): 790-1, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15564409