Detalhe da pesquisa
1.
Branched-chain amino acids as adjunctive-alternative treatment in patients with autism: a pilot study.
Br J Nutr
; 131(1): 73-81, 2024 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424284
2.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
3.
Blood pressure in children with sickle cell disease is higher than in the general pediatric population.
BMC Pediatr
; 22(1): 549, 2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36109730
4.
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
5.
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
6.
Hypertension and childhood stroke.
Pediatr Nephrol
; 36(4): 809-823, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350664
7.
Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.
Am J Med Genet A
; 164A(3): 764-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357427
8.
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Ann Neurol
; 71(4): 520-30, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522443
9.
Clinical course and seizure outcome of idiopathic childhood epilepsy: determinants of early and long-term prognosis.
BMC Neurol
; 13: 206, 2013 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-24350775
10.
Autism spectrum disorders: the quest for genetic syndromes.
Am J Med Genet B Neuropsychiatr Genet
; 162B(4): 327-66, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23650212
11.
Developing treatment options for metachromatic leukodystrophy.
Mol Genet Metab
; 105(1): 56-63, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22078456
12.
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.
J Pediatr Hematol Oncol
; 34(6): 412-5, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22627578
13.
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Brain
; 133(Pt 6): 1810-22, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20430833
14.
Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association.
Eur J Paediatr Neurol
; 30: 58-65, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33387903
15.
The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex.
Pediatr Neurol
; 123: 43-49, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34399109
16.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nat Commun
; 12(1): 5529, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34545092
17.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Hum Mutat
; 31(4): 380-90, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052767
18.
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Radiology
; 251(3): 856-65, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19474378
19.
Neurological complications in childhood nephrotic syndrome: A systematic review.
Eur J Paediatr Neurol
; 23(3): 384-391, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30837193
20.
Two Greek siblings with sepiapterin reductase deficiency.
Mol Genet Metab
; 94(4): 403-409, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18502672