Detalhe da pesquisa
1.
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.
Proc Natl Acad Sci U S A
; 116(9): 3662-3667, 2019 02 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30808755
2.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet
; 96(3): 462-73, 2015 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25683120
3.
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Am J Med Genet A
; 176(9): 1890-1896, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30152016
4.
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
Genet Med
; 19(8): 926-935, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28151490
5.
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
Am J Hematol
; 92(9): 929-939, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28569047
6.
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.
Mol Genet Metab
; 117(2): 95-103, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26387627
7.
Low bone mineral density is a common finding in patients with homocystinuria.
Mol Genet Metab
; 117(3): 351-4, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26689745
8.
Atypical Williams syndrome in an infant with complete atrioventricular canal defect.
Am J Med Genet A
; 167A(12): 3108-12, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26271350
9.
Quantification of Bone Marrow Involvement in Treated Gaucher Disease With Proton MR Spectroscopy: Correlation With Bone Marrow MRI Scores and Clinical Status.
AJR Am J Roentgenol
; 204(6): 1296-302, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-26001241
10.
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Am J Med Genet A
; 161A(3): 527-33, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23401415
11.
Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism.
Pediatr Nephrol
; 28(7): 1135-9, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23503767
12.
A disease severity scoring system for children with type 1 Gaucher disease.
Eur J Pediatr
; 172(1): 39-43, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22992811
13.
Revised recommendations for the management of Gaucher disease in children.
Eur J Pediatr
; 172(4): 447-58, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22772880
14.
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
J Pediatr
; 182: 363-370, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27939258
15.
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.
Eur J Pediatr
; 171(6): 911-9, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22234477
16.
Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS).
Orphanet J Rare Dis
; 17(1): 145, 2022 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35365177
17.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Am J Hum Genet
; 83(1): 106-11, 2008 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-18565486
18.
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.
Blood Cells Mol Dis
; 46(1): 66-72, 2011 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21112800
19.
Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome.
J Pediatr
; 156(2): 253-8.e1, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19846117
20.
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
Am J Med Genet A
; 152A(10): 2618-22, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20799338