Detalhe da pesquisa
1.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976411
2.
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
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.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
5.
Comparative analysis of gene and disease selection in genomic newborn screening studies.
J Inherit Metab Dis
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757337
6.
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
7.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499966
8.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
9.
Live-virus neutralization of the omicron variant in children and adults 14 months after SARS-CoV-2 wild-type infection.
J Med Virol
; 95(3): e28582, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794653
10.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
11.
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
12.
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects.
J Inherit Metab Dis
; 46(6): 1078-1088, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603032
13.
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
14.
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
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266255
16.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603033
17.
Etiology and Outcome of Adult and Pediatric Acute Liver Failure in Europe.
J Pediatr Gastroenterol Nutr
; 77(1): 115-120, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36930963
18.
Humoral immune response and live-virus neutralization of the SARS-CoV-2 omicron (BA.1) variant after COVID-19 mRNA vaccination in children and young adults with chronic kidney disease.
Pediatr Nephrol
; 38(6): 1935-1948, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36409368
19.
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
Mol Genet Metab
; 137(4): 359-381, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427457
20.
Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study.
Mol Genet Metab
; 137(4): 349-358, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36395710