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.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380699
3.
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model.
J Inherit Metab Dis
; 47(3): 494-508, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196161
4.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Brain
; 146(7): 3003-3013, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729635
5.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
6.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
J Inherit Metab Dis
; 46(1): 66-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088537
7.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
8.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190816
9.
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Dev Med Child Neurol
; 65(12): 1596-1606, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246331
10.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
11.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
12.
Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment.
Entropy (Basel)
; 23(8)2021 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34441170
13.
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
14.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis
; 43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369189
15.
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Am J Med Genet A
; 179(12): 2459-2468, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31520464
16.
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.
J Inherit Metab Dis
; 42(4): 706-727, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30883825
17.
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
18.
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
19.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
J Inherit Metab Dis
; 40(1): 21-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27905001
20.
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