Detalhe da pesquisa
1.
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Am J Hum Genet
; 102(1): 188-195, 2018 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29304374
2.
Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.
Genome Res
; 28(7): 1039-1052, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29773658
3.
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Genet Med
; 18(12): 1235-1243, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27171547
4.
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Genet Med
; 18(3): 239-48, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26795590
5.
Newborn screening for Krabbe disease: the New York State model.
Pediatr Neurol
; 40(4): 245-52; discussion 253-5, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19302934
6.
The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.
Pediatrics
; 140(Suppl 1): S14-S23, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29162674
7.
Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.
Pediatrics
; 140(Suppl 1): S24-S45, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29162675
8.
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
Arch Neurol
; 59(5): 862-5, 2002 May.
Artigo
Inglês
| MEDLINE | ID: mdl-12020273
9.
Current enzyme replacement therapy for the treatment of lysosomal storage diseases.
Pediatr Ann
; 38(8): 448-55, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19725195
10.
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Genet Med
; 7(5): 339-43, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-15915086