PMID- 10612834
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20041117
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 15
IP  - 1
DP  - 2000 Jan
TI  - Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 
      100% mutation detection rate and 5 novel mutations.
PG  - 115-6
AB  - Molecular genetic analysis of 40 patients with glycogen storage disease type Ia
      (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all
      patients. At least 7 patients were diagnosed with GSD Ia solely on the basis of
      clinical findings prior to our analysis. Five mutations, Q20R, W50X, G81R, W156L,
      and G188D have not been reported so far. This study underscores that molecular
      genetic analysis is a reliable and convenient alternative to the enzyme assay in 
      a fresh liver biopsy specimen to diagnose GSD Ia.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Seydewitz, H H
AU  - Seydewitz HH
AD  - Children's Hospital, Albert-Ludwigs-University, Freiburg, Germany.
      sey@kkl200.ukl.uni-freiburg.de
FAU - Matern, D
AU  - Matern D
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Child
MH  - Female
MH  - Glycogen Storage Disease Type I/*diagnosis/ethnology/*genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Molecular Biology/methods
MH  - Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/12/29 00:00
MHDA- 1999/12/29 00:01
CRDT- 1999/12/29 00:00
PHST- 1999/12/29 00:00 [pubmed]
PHST- 1999/12/29 00:01 [medline]
PHST- 1999/12/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W [pii]
AID - 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Jan;15(1):115-6. doi:
      10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W.