Search details
1.
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Mol Genet Metab
; 141(3): 108148, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38302374
2.
Comparative analysis of gene and disease selection in genomic newborn screening studies.
J Inherit Metab Dis
; 2024 May 16.
Article
in English
| MEDLINE | ID: mdl-38757337
3.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis
; 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-38563533
4.
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
J Inherit Metab Dis
; 46(1): 15-27, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36134599
5.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis
; 46(6): 1063-1077, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37429829
6.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis
; 46(2): 220-231, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36266255
7.
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.
Article
in English
| MEDLINE | ID: mdl-37603033
8.
[Evaluation and optimization of newborn screening by structured long-term follow-up-using the example of inherited metabolic diseases]. / Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung am Beispiel der angeborenen Stoffwechselerkrankungen.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 66(11): 1249-1258, 2023 Nov.
Article
in German
| MEDLINE | ID: mdl-37815612
9.
How longitudinal observational studies can guide screening strategy for rare diseases.
J Inherit Metab Dis
; 45(5): 889-901, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35488475
10.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35358327
11.
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
J Inherit Metab Dis
; 45(6): 1070-1081, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36054426
12.
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.
Article
in English
| MEDLINE | ID: mdl-35294644
13.
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.
J Pediatr
; 235: 42-48, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33581104
14.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis
; 44(4): 857-870, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33496032
15.
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications.
J Pediatr
; 216: 165-172.e4, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31604629
16.
Organic acidurias in adults: late complications and management.
J Inherit Metab Dis
; 41(5): 765-776, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29335813
17.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain
; 140(9): 2322-2336, 2017 Sep 01.
Article
in English
| MEDLINE | ID: mdl-29050398
18.
Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases.
Cell Metab
; 2024 May 25.
Article
in English
| MEDLINE | ID: mdl-38834070
19.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Ann Clin Transl Neurol
; 11(4): 883-898, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38263760
20.
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany.
JIMD Rep
; 64(1): 114-120, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36636590