Detalhe da pesquisa
1.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279367
2.
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.
J Inherit Metab Dis
; 45(5): 981-995, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35758105
3.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
4.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
5.
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.
Neuropediatrics
; 52(6): 489-494, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33853163
6.
Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.
Dev Med Child Neurol
; 62(1): 75-82, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529709
7.
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
J Med Genet
; 2017 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28794131
8.
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders.
Eur Radiol
; 27(3): 976-984, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27271921
9.
Reliability and discriminant validity of ataxia rating scales in early onset ataxia.
Dev Med Child Neurol
; 59(4): 427-432, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27767206
10.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290155
11.
Reliability of phenotypic early-onset ataxia assessment: a pilot study.
Dev Med Child Neurol
; 58(1): 70-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25995073
12.
Assessment of speech in early-onset ataxia: a pilot study.
Dev Med Child Neurol
; 56(12): 1202-1206, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24942085
13.
Neurodevelopment after moderate hyperbilirubinemia at term.
Pediatr Res
; 73(5): 655-60, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23407118
14.
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Neurology
; 2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008148
15.
Melatonin in neuropaediatric MRI: a retrospective study of efficacy in a general hospital setting.
Eur J Paediatr Neurol
; 25: 172-180, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31753707
16.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Lancet Diabetes Endocrinol
; 8(7): 594-605, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32559475
17.
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.
Hum Mutat
; 30(1): 29-38, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18636565
18.
The neurological phenotype of developmental motor patterns during early childhood.
Brain Behav
; 9(1): e01153, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30485703
19.
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Lancet Diabetes Endocrinol
; 7(9): 695-706, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31377265
20.
1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency.
J Clin Endocrinol Metab
; 93(5): 1854-9, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18319316