Detalhe da pesquisa
1.
Normal neonatal TREC and KREC levels in early onset juvenile idiopathic arthritis.
Clin Immunol
; 249: 109277, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36878420
2.
Cost-Effectiveness of Newborn Screening for Phenylketonuria and Congenital Hypothyroidism.
J Pediatr
; 256: 38-43.e3, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36495999
3.
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
J Allergy Clin Immunol
; 149(4): 1428-1436, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34537207
4.
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
J Clin Immunol
; 42(3): 618-633, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35080750
5.
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.
Int J Mol Sci
; 20(11)2019 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-31146325
6.
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
J Clin Immunol
; 37(1): 51-60, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27873105
7.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
J Med Genet
; 52(11): 779-83, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26084283
8.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
BMC Genomics
; 15: 1090, 2014 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-25495354
9.
Neonatal screening for congenital hypothyroidism in Sweden 1980-2013: effects of lowering the thyroid-stimulating hormone threshold.
Eur J Endocrinol
; 188(6): 536-546, 2023 Jun 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37306289
10.
Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels.
Front Immunol
; 14: 1257581, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37771582
11.
Newborn Screening in a Pandemic-Lessons Learned.
Int J Neonatal Screen
; 9(2)2023 Apr 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37092515
12.
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
JIMD Rep
; 63(2): 181-190, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35281659
13.
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Int J Neonatal Screen
; 8(2)2022 May 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35645285
14.
[Neonatal screening in Europe revisited: An ISNS-perspective on the current state and developments since 2010]. / Dépistage néonatal en Europe - Évolution au cours de la dernière décennie et analyse de la situation actuelle par la Société internationale de dépistage néonatal.
Med Sci (Paris)
; 37(5): 441-456, 2021 May.
Artigo
Francês
| MEDLINE | ID: mdl-34003089
15.
First Year of TREC-Based National SCID Screening in Sweden.
Int J Neonatal Screen
; 7(3)2021 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-34449549
16.
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
Int J Neonatal Screen
; 7(2)2021 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-33922835
17.
Regulatory landscape of providing information on newborn screening to parents across Europe.
Eur J Hum Genet
; 29(1): 67-78, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33040093
18.
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Int J Neonatal Screen
; 7(1)2021 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33808002
19.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
Inglês
| MEDLINE | ID: mdl-33726816
20.
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
Int J Neonatal Screen
; 6(3): 68, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-33117907