Fundraising September 15, 2024 – October 1, 2024
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1
JIMD Reports, Volume 22
Springer-Verlag Berlin Heidelberg
Johannes Zschocke
,
Matthias Baumgartner
,
Eva Morava
,
Marc Patterson
,
Shamima Rahman
,
Verena Peters (eds.)
patients
patient
fabry
clinical
reports
jimd
reported
mutation
symptoms
deficiency
apob
acute
mutations
severe
analysis
gene
levels
therapy
haem
facial
porphyria
enzyme
females
fhbl
activity
metabolic
onset
showed
gb3
genet
ivs4
diseases
classical
homozygous
imd
studies
pnpo
report
diagnosis
metab
department
significant
arginate
cardiac
disorders
agalsidase
increased
mitochondrial
response
plp
Year:
2015
Language:
english
File:
PDF, 5.24 MB
Your tags:
0
/
0
english, 2015
2
JIMD Reports, Volume 25
Springer-Verlag Berlin Heidelberg
Eva Morava
,
Matthias Baumgartner
,
Marc Patterson
,
Shamima Rahman
,
Johannes Zschocke
,
Verena Peters (eds.)
patients
patient
agalsidase
plasma
liver
clinical
beta
urine
reports
activity
jimd
deficiency
mutations
mutation
protein
analysis
reported
levels
mps
enzyme
vitamin
gene
renal
lyso
showed
transplantation
therapy
alfa
fabry
function
dose
serum
mri
plp
onset
values
mmol
metabolic
citrulline
increased
biochemical
genet
supplementation
baseline
domino
concentrations
diagnosis
observed
range
significant
Year:
2016
Language:
english
File:
PDF, 3.26 MB
Your tags:
0
/
0
english, 2016
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