Detalhe da pesquisa
1.
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
J Inherit Metab Dis
; 45(3): 445-455, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174513
2.
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
Hum Mol Genet
; 27(3): 499-504, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29211846
3.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Hum Mutat
; 40(10): 1731-1748, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31045291
4.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
5.
"On air" diagnosis of sudden cardiac death with dynamic Holter ECG in glycogen storage disease type III young female.
Minerva Pediatr
; 72(2): 142-144, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32441908
6.
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
ScientificWorldJournal
; 2013: 625824, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24294134
7.
A Child With Ichthyosis and Liver Failure.
J Pediatr Gastroenterol Nutr
; 65(3): e70-e73, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28562522
8.
Depression, anxiety, self-efficacy and self-esteem in high risk pregnancy.
Minerva Obstet Gynecol
; 2022 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35829625
9.
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
10.
The Early Elementary School Abbreviated Math Anxiety Scale (the EES-AMAS): A New Adapted Version of the AMAS to Measure Math Anxiety in Young Children.
Front Psychol
; 11: 1014, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32528380
11.
Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.
Neuromuscul Disord
; 29(1): 67-69, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30553701
12.
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
Lab Invest
; 88(3): 275-83, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18253147
13.
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
Ann Neurol
; 62(4): 422-6, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17696123
14.
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Acta Ophthalmol
; 95(8): e776-e782, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28481040
15.
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
Eur J Hum Genet
; 23(12): 1708-12, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25782672
16.
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.
JIMD Rep
; 15: 71-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24740313
17.
Infantile-Onset Pompe Disease: The Care Beyond the Cure.
J Neuromuscul Dis
; 2(s1): S58-S59, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858649