Detalhe da pesquisa
1.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis
; 46(6): 1063-1077, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429829
2.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis
; 44(4): 857-870, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496032
3.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33274439
4.
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Ann Nutr Metab
; 76(4): 268-276, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32683363
5.
[Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy]. / Ernährung bei angeborenen Stoffwechselerkrankungen ein Spagat zwischen Genuss und Therapie.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 63(7): 864-871, 2020 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-32542434
6.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Ann Neurol
; 83(5): 970-979, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29665094
7.
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Neuropediatrics
; 49(6): 363-368, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29954013
8.
Frequency of stress dosing and adrenal crisis in paediatric and adult patients with congenital adrenal hyperplasia: a prospective study.
Eur J Endocrinol
; 190(4): 275-283, 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38584334
9.
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
Orphanet J Rare Dis
; 16(1): 215, 2021 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33980297
10.
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Int J Neonatal Screen
; 7(2)2021 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34207159
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34178604
12.
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.
Int J Neonatal Screen
; 8(1)2021 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35076458
13.
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Sci Rep
; 11(1): 19300, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588557
14.
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Sci Rep
; 11(1): 20618, 2021 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34642359