PMID- 442990
OWN - NLM
STAT- MEDLINE
DCOM- 19790716
LR  - 20190812
IS  - 0001-6322 (Print)
IS  - 0001-6322 (Linking)
VI  - 45
IP  - 3
DP  - 1979 Mar 15
TI  - Skin and conjunctival biopsies in infantile neuroaxonal dystrophy.
PG  - 247-51
AB  - The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient 
      was confirmed by the ultrastructural study of neuromuscular, skin and 
      conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar 
      and tubular profiles were found in presynaptic terminals and in conjunctival and 
      dermal axons. INAD is the first neurological disease outside the group of storage 
      disorders in which skin and conjunctival biopsies contribute significiantly to 
      the diagnosis.
FAU - Martin, J J
AU  - Martin JJ
FAU - Leroy, J G
AU  - Leroy JG
FAU - Libert, J
AU  - Libert J
FAU - van Eygen, M
AU  - van Eygen M
FAU - Logghe, N
AU  - Logghe N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Acta Neuropathol
JT  - Acta neuropathologica
JID - 0412041
SB  - IM
MH  - Axons/ultrastructure
MH  - Biopsy
MH  - Child, Preschool
MH  - Conjunctiva/*pathology/ultrastructure
MH  - Humans
MH  - Lipidoses/*pathology
MH  - Male
MH  - Microscopy, Electron
MH  - Skin/*pathology/ultrastructure
EDAT- 1979/03/15 00:00
MHDA- 1979/03/15 00:01
CRDT- 1979/03/15 00:00
PHST- 1979/03/15 00:00 [pubmed]
PHST- 1979/03/15 00:01 [medline]
PHST- 1979/03/15 00:00 [entrez]
AID - 10.1007/BF00702677 [doi]
PST - ppublish
SO  - Acta Neuropathol. 1979 Mar 15;45(3):247-51. doi: 10.1007/BF00702677.