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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.
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.
J Pediatr
; 235: 42-48, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33581104
3.
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis-implications for process quality and patient care.
Eur J Pediatr
; 180(4): 1145-1155, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33104872
4.
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications.
J Pediatr
; 216: 165-172.e4, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31604629
5.
Genetic cause and prevalence of hydroxyprolinemia.
J Inherit Metab Dis
; 39(5): 625-632, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27139199
6.
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
Int J Neonatal Screen
; 10(1)2024 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38535121
7.
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
Nutrients
; 15(15)2023 Jul 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37571294
8.
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.
J Pediatr
; 156(3): 427-32, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19914636
9.
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.
Pediatrics
; 146(5)2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33051224
10.
Molecular neonatal screening for homocystinuria in the Qatari population.
Hum Mutat
; 30(6): 1021-2, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19370759
11.
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.
World J Pediatr
; 14(5): 470-481, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-29948967
12.
Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.
World J Pediatr
; 13(2): 136-143, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28101774
13.
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.
JIMD Rep
; 32: 87-94, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-27325427
14.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
JIMD Rep
; 23: 101-12, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25940036
15.
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.
Orphanet J Rare Dis
; 6: 44, 2011 Jun 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-21689452
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