Search Results - "Araya, Nami"
-
1
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome
Published in Journal of the neurological sciences (15-04-2023)“…In glucose transporter 1 deficiency syndrome (Glut1DS), cerebrospinal fluid glucose (CSFG) and CSFG to blood glucose ratio (CBGR) show significant differences…”
Get full text
Journal Article -
2
Characteristic proton magnetic resonance spectroscopy in glucose transporter type 1 deficiency syndrome
Published in Pediatrics international (01-10-2018)Get full text
Journal Article -
3
Intellectual outcomes of extremely preterm infants at school age
Published in Pediatrics international (01-05-2017)“…Background The survival rate of extremely preterm (EP) infants (<28 weeks of gestation) has improved dramatically, and there is great interest in the long‐term…”
Get full text
Journal Article -
4
Temporal brain metabolite changes in preterm infants with normal development
Published in Brain & development (Tokyo. 1979) (01-03-2017)“…Abstract Objective Preterm infants are at high risk for developmental delay, epilepsy, and autism spectrum disorders. Some reports have described associations…”
Get full text
Journal Article -
5
Hypofibrinogenemia caused by adrenocorticotropic hormone for infantile spasms: A case report
Published in Brain & development (Tokyo. 1979) (01-01-2015)“…Abstract We report the case of a 7-month-old boy who developed hypofibrinogenemia (66.6 mg/dL; reference value, 170–405 mg/dL) during adrenocorticotropic…”
Get full text
Journal Article -
6
Assessing Temporal Brain Metabolite Changes in Preterm Infants Using Multivoxel Magnetic Resonance Spectroscopy
Published in Magnetic Resonance in Medical Sciences (01-01-2016)“…Purpose: To investigate temporal changes in brain metabolites during the first year of life in preterm infants using multivoxel proton magnetic resonance…”
Get full text
Journal Article -
7
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
Published in Human genome variation (12-07-2018)“…We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora…”
Get full text
Journal Article -
8
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
Published in American journal of human genetics (01-08-2019)“…Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and…”
Get full text
Journal Article -
9
Successful Management of Fulminant Guillain-Barré Syndrome and Its Complications
Published in Pediatric emergency care (01-05-2018)“…ABSTRACTA 3-year-old girl presented with muscle weakness of her limbs and trunk 6 days after developing symptoms of common cold. Two days later, she…”
Get full text
Journal Article -
10
Antibodies against peptides of NMDA-type GluR in cerebrospinal fluid of patients with epileptic spasms
Published in European journal of paediatric neurology (01-11-2016)“…Abstract Objective We investigated the contribution of antibodies against N-methyl- d -aspartate (NMDA)-type glutamate receptor (GluR) in cerebrospinal fluid…”
Get full text
Journal Article -
11
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
Published in Human genome variation (01-01-2018)Get full text
Report