Search details
1.
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 628(8009): 872-877, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38570682
2.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Article
in English
| MEDLINE | ID: mdl-36190515
3.
Author Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 629(8011): E10, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38649490
4.
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Hum Genet
; 142(5): 697-704, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36773065
5.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36994644
6.
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
J Inherit Metab Dis
; 46(5): 943-955, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37276053
7.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Article
in English
| MEDLINE | ID: mdl-38044746
8.
Transplantation in paediatric patients with MMA requires multidisciplinary approach for achievement of good clinical outcomes.
Pediatr Nephrol
; 38(8): 2887-2896, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36840752
9.
Evolution of viral variants in remdesivir-treated and untreated SARS-CoV-2-infected pediatrics patients.
J Med Virol
; 94(1): 161-172, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34415583
10.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35279850
11.
Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study.
J Inherit Metab Dis
; 44(1): 253-263, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32885845
12.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33595124
13.
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
J Inherit Metab Dis
; 44(4): 903-915, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33634872
14.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
J Inherit Metab Dis
; 44(6): 1463-1480, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34418116
15.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32681750
16.
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Mol Genet Metab
; 131(1-2): 135-146, 2020.
Article
in English
| MEDLINE | ID: mdl-33342467
17.
Inborn errors of metabolism leading to neuronal migration defects.
J Inherit Metab Dis
; 43(1): 145-155, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31747049
18.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32681751
19.
Bullying bystander behaviors: The role of coping effectiveness and the moderating effect of gender.
Scand J Psychol
; 61(1): 38-46, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31250925
20.
Liver neoplasms in methylmalonic aciduria: An emerging complication.
J Inherit Metab Dis
; 42(5): 793-802, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31260114