Detalhe da pesquisa
1.
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
Epilepsia
; 55(2): e13-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24417746
2.
[Prognoses of acute encephalopathy].
No To Hattatsu
; 43(4): 285-90, 2011 Jul.
Artigo
em Japonês
| MEDLINE | ID: mdl-21800692
3.
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
Brain Dev
; 43(3): 402-410, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33261925
4.
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
Brain Dev
; 38(10): 959-963, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27371992
5.
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Brain Dev
; 37(6): 638-42, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25457085
6.
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
Brain Dev
; 36(7): 630-3, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24045174
7.
Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations.
Thyroid
; 22(10): 1069-75, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22947347