Detalhe da pesquisa
1.
Genetic disorders of cellular trafficking.
Trends Genet;
38(7): 724-751, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35367088
2.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet;
109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36055214
3.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet;
107(6): 1062-1077, 2020 12 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33217309
4.
The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.
J Inherit Metab Dis;
46(5): 906-915, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37395264
5.
Neurologic outcome following liver transplantation for methylmalonic aciduria.
J Inherit Metab Dis;
46(3): 450-465, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36861405
6.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
J Inherit Metab Dis;
46(4): 554-572, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37243446
7.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet;
59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34656997
8.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet;
104(5): 914-924, 2019 05 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30982611
9.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med;
24(4): 894-904, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35042660
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35279850
11.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Hum Mutat;
42(6): 699-710, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33715266
12.
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.
Mol Genet Metab;
134(1-2): 87-95, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34304991
13.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Cerebellum;
20(4): 596-605, 2021 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33619652
14.
Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data.
J Inherit Metab Dis;
44(3): 593-605, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32996606
15.
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.
J Inherit Metab Dis;
44(1): 215-225, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32785952
16.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis;
44(3): 566-592, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33595124
17.
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.
J Inherit Metab Dis;
44(5): 1124-1135, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33844307
18.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis;
44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32677093
19.
Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?
Europace;
23(6): 948-957, 2021 06 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33336258
20.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Neurogenetics;
21(2): 87-96, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31900734