Detalles de la búsqueda
1.
First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.
J Pediatr
; 263: 113644, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37516270
2.
Providers' Perspectives on Treating Patients With Thalassemia.
J Pediatr Hematol Oncol
; 41(7): e421-e426, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31368920
3.
Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.
Genet Med
; 20(8): 831-839, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29215646
4.
Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?
Genet Med
; 19(10): 1159-1163, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28471435
5.
Emergency department utilization by Californians with sickle cell disease, 2005-2014.
Pediatr Blood Cancer
; 64(6)2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28000344
6.
Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California.
Genet Med
; 18(3): 259-64, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26656653
7.
A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
Mol Genet Metab
; 118(4): 221-9, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27268406
8.
State-based surveillance for selected hemoglobinopathies.
Genet Med
; 17(2): 125-30, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24991875
9.
Undiagnosed metabolic dysfunction and sudden infant death syndrome--a case-control study.
Paediatr Perinat Epidemiol
; 29(2): 151-5, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25689231
10.
Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings.
Genet Med
; 16(6): 484-90, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24310309
11.
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Mol Genet Metab
; 111(4): 484-92, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24503138
12.
Population based surveillance in sickle cell disease: methods, findings and implications from the California registry and surveillance system in hemoglobinopathies project (RuSH).
Pediatr Blood Cancer
; 61(12): 2271-6, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25176145
13.
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Mol Genet Metab
; 110(4): 477-83, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24103308
14.
Birth prevalence of disorders detectable through newborn screening by race/ethnicity.
Genet Med
; 14(11): 937-45, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22766612
15.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Mol Genet Metab
; 106(1): 55-61, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22424739
16.
California's experience with SMA newborn screening: A successful path to early intervention.
J Neuromuscul Dis
; 9(6): 777-785, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36278357
17.
What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.
Genet Med
; 13(10): 861-5, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21716119
18.
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Int J Neonatal Screen
; 7(2)2021 Apr 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-33920672
19.
The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings.
Genet Med
; 12(12 Suppl): S242-50, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21150370
20.
Fred Lorey Passed Away.
Int J Neonatal Screen
; 6(4)2020 Nov 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33158016