Detalhe da pesquisa
1.
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Am J Hum Genet
; 102(2): 321-329, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394991
2.
Carnitine-related hypoglycemia caused by 3 days of pivalate antibiotic therapy in a patient with severe muscular dystrophy: a case report.
BMC Pediatr
; 17(1): 73, 2017 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28292283
3.
Clinical Usefulness of Serum Krebs von den Lungen-6 for Detecting Chronic Aspiration in Children with Severe Motor and Intellectual Disabilities.
J Pediatr
; 167(5): 1136-42, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26382626
4.
KL-6 as a biomarker of respiratory complications in severely disabled children.
Pediatr Int
; 57(3): 439-42, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25405273
5.
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Am J Med Genet A
; 164A(8): 1899-908, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715670
6.
Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome.
J Dermatol Sci
; 107(3): 114-122, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35973883
7.
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.
Biochim Biophys Acta
; 1800(3): 313-5, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19616603
8.
Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.
Brain Dev
; 42(8): 594-602, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32505480
9.
Childhood absence epilepsy with clinically apparent genetic and acquired burdens: a diagnostic consideration.
J Child Neurol
; 23(1): 102-5, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18079316
10.
Alpha-methyl-l-tryptophan positron emission tomography in epilepsy with cortical developmental malformations.
Pediatr Neurol
; 39(3): 181-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18725063
11.
Diffusion tensor imaging of the corticospinal tract following cerebral hemispherectomy.
J Child Neurol
; 21(7): 566-71, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16970845
12.
Benign angiopathy of the central nervous system associated with phenytoin intoxication.
Brain Dev
; 28(5): 336-8, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16376047
13.
Carnitine deficiency: Risk factors and incidence in children with epilepsy.
Brain Dev
; 37(8): 790-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25547040
14.
Elevated pitch perception owing to carbamazepine-activating effect on the peripheral auditory system: auditory brainstem response study.
J Child Neurol
; 19(6): 453-5, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15446396
15.
Clinical investigation of genetic contributions to childhood-onset epilepsies and epileptic syndromes.
Brain Dev
; 26(3): 184-9, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15030907
16.
[Long-term follow-up of a case of eyelid myoclonia with absences].
No To Hattatsu
; 36(5): 379-84, 2004 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-15461025
17.
An immunologic case study of acute encephalitis with refractory, repetitive partial seizures.
Brain Dev
; 34(9): 763-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265641
18.
Idiopathic childhood occipital epilepsy of Gastaut: report of 12 patients.
Pediatr Neurol
; 44(3): 183-6, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310333
19.
Differences in automated analyzers for assessing the use of imprecise serum chloride concentrations as indirect predictors of serum bromide concentrations.
Epilepsy Res
; 96(1-2): 158-60, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21723095
20.
Atypical childhood absence epilepsy with preceding or simultaneous generalized tonic clonic seizures.
Brain Dev
; 33(7): 589-92, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21041049