PMID- 10352942
OWN - NLM
STAT- MEDLINE
DCOM- 19990812
LR  - 20041117
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 4
DP  - 1999 May-Jun
TI  - Is the perinatal lethal form of Gaucher disease more common than classic type 2
      Gaucher disease?
PG  - 505-9
AB  - In recent years there has been increased recognition of a severe perinatal lethal
      form of Gaucher disease, the inherited deficiency of lysosomal
      glucocerebrosidase. We previously reported a case of severe type 2 Gaucher
      disease which was seen in a medical center in Rotterdam and now present three new
      cases from two other families seen at the same center. Mutational analyses of
      these cases revealed two novel mutations, H311R and V398F, located in exons 8 and
      9, respectively. The identification of four cases of lethal type 2 Gaucher
      disease in a single center seems to be a function of increased awareness of this 
      phenotype, rather than of geographic clustering. The actual incidence of lethal
      type 2 Gaucher disease may be underestimated, as many cases may have been
      misclassified as collodion babies or hydrops of unknown cause.
FAU - Stone, D L
AU  - Stone DL
AD  - Clinical Neuroscience Branch, National Institute of Mental Health, National
      Institutes of Health, Bethesda, MD 20892-4405, USA.
FAU - van Diggelen, O P
AU  - van Diggelen OP
FAU - de Klerk, J B
AU  - de Klerk JB
FAU - Gaillard, J L
AU  - Gaillard JL
FAU - Niermeijer, M F
AU  - Niermeijer MF
FAU - Willemsen, R
AU  - Willemsen R
FAU - Tayebi, N
AU  - Tayebi N
FAU - Sidransky, E
AU  - Sidransky E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - EC 3.2.1.45 (Glucosylceramidase)
SB  - IM
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Fatal Outcome
MH  - Female
MH  - Fibroblasts/pathology
MH  - Gaucher Disease/*epidemiology/*genetics/pathology
MH  - Glucosylceramidase/*genetics
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Pregnancy
MH  - Skin/pathology
EDAT- 1999/06/03 00:00
MHDA- 1999/06/03 00:01
CRDT- 1999/06/03 00:00
PHST- 1999/06/03 00:00 [pubmed]
PHST- 1999/06/03 00:01 [medline]
PHST- 1999/06/03 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200315 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 May-Jun;7(4):505-9. doi: 10.1038/sj.ejhg.5200315.