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1.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
J Inherit Metab Dis
; 46(6): 1043-1062, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37603033
2.
[Newborn blood spot screening (NBS) in Germany : Status quo and presentation of a concept for further development]. / Neugeborenen-Screening aus Trockenblut (NBS) in Deutschland : Status quo und Vorstellung eines Konzeptes zur Weiterentwicklung.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 66(11): 1195-1204, 2023 Nov.
Artículo
en Alemán
| MEDLINE | ID: mdl-37815611
3.
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening.
Eur J Pediatr
; 181(6): 2415-2422, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35294644
4.
Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.
Int J Neonatal Screen
; 9(3)2023 Jun 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37489488
5.
Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs.
Int J Environ Res Public Health
; 20(5)2023 03 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36901502
6.
Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation.
Int J Neonatal Screen
; 7(4)2021 Oct 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-34698071
7.
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience.
Mol Genet Metab Rep
; 28: 100776, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34178604
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