| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency
|
Yamakawa, Yoko
|
|
2012
|
34 |
2 |
p. 107-112
6 p.
|
artikel
|
| 2 |
Announcements and reports
|
|
|
2012
|
34 |
2 |
p. I-VII
nvt p.
|
artikel
|
| 3 |
Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene
|
Koga, Yasutoshi
|
|
2012
|
34 |
2 |
p. 87-91
5 p.
|
artikel
|
| 4 |
Challenges of supplementary treatment for neurodegenerative diseases
|
Matsuo, Masafumi
|
|
2012
|
34 |
2 |
p. 85-86
2 p.
|
artikel
|
| 5 |
Clinicogenetical features of a Japanese patient with giant axonal neuropathy
|
Akagi, Motohiro
|
|
2012
|
34 |
2 |
p. 156-162
7 p.
|
artikel
|
| 6 |
Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease
|
Ishigaki, Keiko
|
|
2012
|
34 |
2 |
p. 98-102
5 p.
|
artikel
|
| 7 |
Concurrence of multiple types of eyelid synkinesia in a patient with congenital anomalies
|
Ishiyama, Akihiko
|
|
2012
|
34 |
2 |
p. 140-142
3 p.
|
artikel
|
| 8 |
Contents
|
|
|
2012
|
34 |
2 |
p. OBC-
1 p.
|
artikel
|
| 9 |
Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system
|
Yamada, Keitaro
|
|
2012
|
34 |
2 |
p. 92-97
6 p.
|
artikel
|
| 10 |
Editorial Board
|
|
|
2012
|
34 |
2 |
p. IFC-
1 p.
|
artikel
|
| 11 |
Etiological analysis of presumed perinatal stroke
|
Kocaman, Canan
|
|
2012
|
34 |
2 |
p. 133-139
7 p.
|
artikel
|
| 12 |
High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease
|
Ishigaki, Keiko
|
|
2012
|
34 |
2 |
p. 103-106
4 p.
|
artikel
|
| 13 |
Histopathology of cortex and white matter in pediatric epileptic spasms: Comparison with those of partial seizures
|
Inage, Yukiko
|
|
2012
|
34 |
2 |
p. 118-123
6 p.
|
artikel
|
| 14 |
IBC
|
|
|
2012
|
34 |
2 |
p. IBC-
1 p.
|
artikel
|
| 15 |
Klinefelter’s syndrome complicated with West syndrome in a 4-month-old boy
|
Inoue, Hirofumi
|
|
2012
|
34 |
2 |
p. 148-150
3 p.
|
artikel
|
| 16 |
Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy
|
Arakawa, Chikako
|
|
2012
|
34 |
2 |
p. 115-117
3 p.
|
artikel
|
| 17 |
Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria
|
Papetti, Laura
|
|
2012
|
34 |
2 |
p. 143-147
5 p.
|
artikel
|
| 18 |
Methylmalonic acidemia and hyperglycemia: An unusual association
|
Imen, Marouani
|
|
2012
|
34 |
2 |
p. 113-114
2 p.
|
artikel
|
| 19 |
Motor skills, haptic perception and social abilities in children with mild speech disorders
|
Müürsepp, Iti
|
|
2012
|
34 |
2 |
p. 128-132
5 p.
|
artikel
|
| 20 |
Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)
|
Miyata, Rie
|
|
2012
|
34 |
2 |
p. 124-127
4 p.
|
artikel
|
| 21 |
Past, present and future of hypothermic neuroprotection for neonatal encephalopathy in Japan: Time to say good-by to the old remedies
|
Iwata, Osuke
|
|
2012
|
34 |
2 |
p. 163-164
2 p.
|
artikel
|
| 22 |
Schinzel–Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy
|
Watanabe, Shuei
|
|
2012
|
34 |
2 |
p. 151-155
5 p.
|
artikel
|
| 23 |
Therapeutic hypothermia for neonatal encephalopathy: JSPNM & MHLW Japan Working Group Practice Guidelines
|
Takenouchi, Toshiki
|
|
2012
|
34 |
2 |
p. 165-170
6 p.
|
artikel
|
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