PMID- 1659791
OWN - NLM
STAT- MEDLINE
DCOM- 19920102
LR  - 20190907
IS  - 0387-7604 (Print)
IS  - 0387-7604 (Linking)
VI  - 13
IP  - 4
DP  - 1991 Jul
TI  - Infantile neuroaxonal dystrophy: diagnosis by skin biopsy.
PG  - 256-9
AB  - A child who shows progressive motor and mental deterioration after the first year 
      of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, 
      suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two 
      years, the EEG also entails characteristic findings. Diagnosis may be obtained by 
      an ultrastructural examination of biopsied skin. The respective clinical and 
      morphological findings are recorded and illustrated from four patients in this 
      report.
FAU - Ozmen, M
AU  - Ozmen M
AD  - Department of Pediatrics, Istanbul University Faculty of Medicine, Turkey.
FAU - Caliskan, M
AU  - Caliskan M
FAU - Goebel, H H
AU  - Goebel HH
FAU - Apak, S
AU  - Apak S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Brain Dev
JT  - Brain & development
JID - 7909235
SB  - IM
MH  - Biopsy
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Infant
MH  - Male
MH  - Neuromuscular Diseases/*pathology
MH  - Peripheral Nervous System Diseases/*pathology
MH  - Skin/*innervation/pathology
EDAT- 1991/07/01 00:00
MHDA- 1991/07/01 00:01
CRDT- 1991/07/01 00:00
PHST- 1991/07/01 00:00 [pubmed]
PHST- 1991/07/01 00:01 [medline]
PHST- 1991/07/01 00:00 [entrez]
AID - S0387-7604(12)80059-3 [pii]
AID - 10.1016/s0387-7604(12)80059-3 [doi]
PST - ppublish
SO  - Brain Dev. 1991 Jul;13(4):256-9. doi: 10.1016/s0387-7604(12)80059-3.