Detalhe da pesquisa
1.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
2.
Successful Management of Fulminant Guillain-Barré Syndrome and Its Complications.
Pediatr Emerg Care
; 34(5): e87-e89, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27977533
3.
Intellectual outcomes of extremely preterm infants at school age.
Pediatr Int
; 59(5): 570-577, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27935152
4.
Characteristic proton magnetic resonance spectroscopy in glucose transporter type 1 deficiency syndrome.
Pediatr Int
; 60(10): 978-979, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30320424
5.
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.
J Neurol Sci
; 447: 120597, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965413
6.
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.
Hum Genome Var
; 5: 16, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30083360
7.
Temporal brain metabolite changes in preterm infants with normal development.
Brain Dev
; 39(3): 196-202, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27838187
8.
Assessing Temporal Brain Metabolite Changes in Preterm Infants Using Multivoxel Magnetic Resonance Spectroscopy.
Magn Reson Med Sci
; 15(2): 187-92, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26567757
9.
Antibodies against peptides of NMDA-type GluR in cerebrospinal fluid of patients with epileptic spasms.
Eur J Paediatr Neurol
; 20(6): 865-873, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27515477
10.
Hypofibrinogenemia caused by adrenocorticotropic hormone for infantile spasms: a case report.
Brain Dev
; 37(1): 137-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24735983