Detalhe da pesquisa
1.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Genet Med
; 26(4): 101039, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054409
2.
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.
Mol Genet Metab
; 141(1): 108097, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113552
3.
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
Mol Genet Metab
; 141(3): 108112, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38301530
4.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563533
5.
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.
J Inherit Metab Dis
; 46(6): 1007-1016, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37702610
6.
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
J Inherit Metab Dis
; 46(1): 15-27, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36134599
7.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
8.
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.
J Pediatr
; 235: 42-48, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581104
9.
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Hum Mutat
; 41(5): 946-960, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943503
10.
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Mol Genet Metab
; 131(4): 390-397, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288448
11.
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications.
J Pediatr
; 216: 165-172.e4, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604629
12.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018246
13.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
J Inherit Metab Dis
; 42(1): 93-106, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740724
14.
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 41(4): 743-744, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330779
15.
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
J Inherit Metab Dis
; 40(1): 75-101, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27853989
16.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 39(5): 661-672, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106216
17.
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I.
J Inherit Metab Dis
; 38(2): 265-72, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25214427
18.
Unmet Needs of Parents of Children with Urea Cycle Disorders.
Children (Basel)
; 9(5)2022 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35626889
19.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Ann Clin Transl Neurol
; 9(11): 1715-1726, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36217298
20.
Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.
JIMD Rep
; 59(1): 110-119, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977036