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1
JIMD Reports - Case and Research Reports, 2012/1
Springer-Verlag Berlin Heidelberg
Lindsay S. Paull
,
Michael J. Lipinski (auth.)
patients
mutations
patient
mutation
gene
clinical
liver
reports
analysis
jimd
enzyme
deficiency
reported
severe
genet
activity
molecular
fabry
ppox
homozygous
phenotype
urinary
protein
urine
dopamine
irt
mps
renal
novel
diagnosis
exon
missense
plasma
dna
mitochondrial
npc1
syndrome
values
failure
levels
hgd
report
cdg
cholesterol
disorders
showed
accumulation
symptoms
pcr
screening
Year:
2012
Language:
english
File:
PDF, 3.02 MB
Your tags:
0
/
0
english, 2012
2
Polymers in Medicine II: Biomedical and Pharmaceutical Applications
Springer US
Garth W. Hastings (auth.)
,
Emo Chiellini
,
Paolo Giusti
,
Claudio Migliaresi
,
Luigi Nicolais (eds.)
surface
polymer
polymers
materials
poly
figure
heparin
surfaces
solution
activity
systems
rate
molecular
plasma
composites
membrane
polymeric
effect
graft
weight
enzyme
liposomes
adhesion
chemical
containing
adsorption
biomaterials
shown
biological
mechanical
obtained
studies
matrix
membranes
protein
platelet
collagen
reaction
groups
method
grafts
ppox
synthetic
observed
prepared
sci
polymerization
preparation
formation
tissue
Year:
1987
Language:
english
File:
PDF, 23.32 MB
Your tags:
0
/
0
english, 1987
3
JIMD Reports Volume 16
Springer-Verlag Berlin Heidelberg
Johannes Zschocke
,
K. Michael Gibson
,
Garry Brown
,
Eva Morava
,
Verena Peters (eds.)
patients
carnitine
mutations
analysis
mps
levels
patient
reports
jimd
clinical
screening
deficiency
samples
urine
mmol
syndrome
c6s
plasma
disorders
metabolic
leucine
function
subjects
metab
mutation
mca
reported
acute
mass
urinary
method
genet
metabolism
therapy
diagnosis
nmr
onset
report
total
range
spinal
acids
prevalence
showed
inherit
mol
symptoms
gene
ratio
cases
Year:
2014
Language:
english
File:
PDF, 4.51 MB
Your tags:
0
/
0
english, 2014
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