Search details
1.
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Mov Disord
; 37(2): 375-383, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34636445
2.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Cardiol Young
; 32(3): 364-373, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-34420548
3.
Participant choices for return of genomic results in the eMERGE Network.
Genet Med
; 22(11): 1821-1829, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32669677
4.
Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm.
Anesth Analg
; 130(6): 1678-1684, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31082970
5.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31086307
6.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Genet Med
; 20(10): 1284-1294, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29565424
7.
Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma.
Pediatr Blood Cancer
; 65(12): e27392, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30094907
8.
Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
Genet Med
; 18(12): 1276-1281, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27195819
9.
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Genet Med
; 18(2): 162-7, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-25856670
10.
Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.
Pediatr Diabetes
; 17(7): 535-539, 2016 11.
Article
in English
| MEDLINE | ID: mdl-26530398
11.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Hepatology
; 70(3): 1066-1070, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30912852
12.
Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Ann Neurol
; 71(3): 304-13, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22451200
13.
Recurrent pancreatitis in ornithine transcarbamylase deficiency.
Mol Genet Metab
; 106(4): 482-4, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22728053
14.
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
J Pediatr
; 182: 363-370, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27939258
15.
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
Front Genet
; 13: 887698, 2022.
Article
in English
| MEDLINE | ID: mdl-35937981
16.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
J Neuromuscul Dis
; 9(6): 713-730, 2022.
Article
in English
| MEDLINE | ID: mdl-36214004
17.
Cardiac disease in methylmalonic acidemia.
J Pediatr
; 159(5): 862-4, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21784454
18.
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
Am J Med Genet A
; 152A(3): 713-7, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20186809
19.
A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
Mov Disord
; 24(3): 364-70, 2009 Feb 15.
Article
in English
| MEDLINE | ID: mdl-19006192
20.
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
Pediatr Res
; 66(3): 329-35, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19542901