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1
Gaucher Disease
CRC/Taylor & Francis
Anthony H. Futerman
,
Ari Zimran
gaucher
patients
enzyme
therapy
brain
marrow
lysosomal
clinical
patient
gene
diseases
activity
glucocerebrosidase
june
figure
gaucher’s
protein
mutations
storage
studies
spleen
genet
neuronopathic
substrate
increased
mouse
glucosylceramide
membrane
mutation
proteins
biol
barrier
levels
liver
disorders
molecular
deficiency
uptake
glucosidase
gcase
lipid
mol
severe
enzymes
bbb
therapeutic
involvement
plasma
saposin
specific
Tahun:
2006
Bahasa:
english
Fail:
PDF, 10.98 MB
Tag anda:
0
/
0
english, 2006
2
Gaucher Disease
CRC Press
Anthony H. Futerman
,
Ari Zimran
gaucher
patients
enzyme
therapy
brain
marrow
lysosomal
clinical
patient
gene
diseases
activity
glucocerebrosidase
june
figure
gaucher’s
protein
mutations
storage
studies
spleen
genet
neuronopathic
substrate
increased
mouse
glucosylceramide
membrane
mutation
proteins
biol
barrier
levels
liver
disorders
molecular
deficiency
uptake
glucosidase
gcase
lipid
mol
severe
enzymes
bbb
therapeutic
involvement
plasma
saposin
specific
Tahun:
2006
Bahasa:
english
Fail:
PDF, 13.45 MB
Tag anda:
0
/
0
english, 2006
3
JIMD Reports, Volume 19
Springer-Verlag Berlin Heidelberg
Johannes Zschocke
,
Matthias Baumgartner
,
Eva Morava
,
Marc Patterson
,
Shamima Rahman
,
Verena Peters (eds.)
patients
mutation
gene
mutations
patient
clinical
reports
reported
jimd
analysis
protein
mitochondrial
deficiency
levels
growth
mmol
brain
diagnosis
range
therapy
galt
missense
genet
molecular
report
ht1
gsd
screening
mol
eating
aspartoacylase
tyrosinemia
showed
concerns
glc4
onset
developmental
liver
studies
syndrome
alleles
enzyme
nbs
phenotype
sequencing
activity
hum
manuscript
galactosemia
metab
Tahun:
2015
Bahasa:
english
Fail:
PDF, 4.15 MB
Tag anda:
0
/
0
english, 2015
1
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