Detalles de la búsqueda
1.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis
; 2024 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38563533
2.
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
J Inherit Metab Dis
; 46(1): 15-27, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36134599
3.
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
4.
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
5.
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
6.
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
7.
High throughput newborn screening for aromatic Ê-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
J Inherit Metab Dis
; 43(3): 602-610, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31849064
8.
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.
J Inherit Metab Dis
; 42(3): 398-406, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30706953
9.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740731
10.
Stage of visual field loss and age at diagnosis in 1988 patients with different glaucomas: implications for glaucoma screening and driving ability.
Int Ophthalmol
; 38(2): 429-441, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28243830
11.
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
Ann Hematol
; 95(3): 397-402, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26658910
12.
Genetic cause and prevalence of hydroxyprolinemia.
J Inherit Metab Dis
; 39(5): 625-632, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27139199
13.
Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life.
J Inherit Metab Dis
; 37(2): 189-95, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23949009
14.
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
15.
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.
Int J Neonatal Screen
; 10(1)2024 Jan 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38248633
16.
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.
Mol Genet Metab
; 108(1): 1-7, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23219290
17.
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany.
JIMD Rep
; 64(1): 114-120, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36636590
18.
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements.
Pediatr Pulmonol
; 58(3): 844-852, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36444714
19.
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
20.
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
Clin Biochem
; 111: 72-80, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36202155