Detalhe da pesquisa
1.
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.
Muscle Nerve
; 65(1): 51-59, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606118
2.
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Mol Genet Metab
; 131(3): 325-340, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33069577
3.
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Mol Genet Metab
; 129(3): 193-206, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980395
4.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Mol Genet Metab
; 126(4): 475-488, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30691927
5.
Genomic diagnostics within a medically underserved population: efficacy and implications.
Genet Med
; 20(1): 31-41, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726809
6.
Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy.
J Pediatr Orthop
; 38(10): e610-e617, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134351
7.
Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
J Pediatr
; 191: 145-151, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29173298
8.
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Nat Genet
; 34(1): 91-6, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12704386
9.
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.
Am J Hematol
; 86(10): 827-34, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21815188
10.
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Clin Immunol
; 131(1): 119-28, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19150606
11.
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
Brain
; 130(Pt 7): 1929-41, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17522105
12.
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Mol Genet Metab
; 91(2): 165-75, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17409006
13.
The complete genome sequence of Bacillus thuringiensis Al Hakam.
J Bacteriol
; 189(9): 3680-1, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17337577
14.
Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
Eur J Pediatr
; 165(5): 306-19, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16435131
15.
Pathogenomic sequence analysis of Bacillus cereus and Bacillus thuringiensis isolates closely related to Bacillus anthracis.
J Bacteriol
; 188(9): 3382-90, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16621833
16.
Type I glutaric aciduria, part 1: natural history of 77 patients.
Am J Med Genet C Semin Med Genet
; 121C(1): 38-52, 2003 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12888985
17.
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
Pediatrics
; 109(6): 999-1008, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12042535
18.
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.
Am J Med Genet C Semin Med Genet
; 121C(1): 5-17, 2003 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12888982
19.
A case study of Brugada syndrome.
Air Med J
; 22(3): 47-9, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12748532
20.
A case review: near fatal residential hydrogen sulfide exposure.
Air Med J
; 21(3): 46-8, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-11994735