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.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994644
4.
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria.
Pharmacol Res
; 197: 106952, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804926
5.
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
J Inherit Metab Dis
; 46(3): 466-481, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37067856
6.
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
7.
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
8.
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
9.
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Int J Mol Sci
; 25(1)2023 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38203665
10.
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Hum Genet
; 141(7): 1239-1251, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652574
11.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Mol Genet Metab
; 135(4): 327-332, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279366
12.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358327
13.
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
Pediatr Transplant
; 26(6): e14318, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35633129
14.
Hypoglycemia in a Pediatric Emergency Department: Single-Center Experience on 402 Children.
Pediatr Emerg Care
; 38(1): e404-e409, 2022 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33273431
15.
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
16.
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Hum Genet
; 140(10): 1471-1485, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417872
17.
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease.
Mol Genet Metab
; 134(4): 337-343, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34810067
18.
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
19.
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
J Inherit Metab Dis
; 44(3): 705-717, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325062
20.
Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
J Inherit Metab Dis
; 44(3): 677-692, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33295057