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1
Newborn Screening for Pompe Disease
MDPI
Wuh-Liang Hwu
,
Yin-Hsiu Chien
,
Raymond Wang
pompe
screening
patients
nbs
crossref
lopd
enzyme
onset
activity
iopd
screen
cases
diagnosis
neonatal
newborns
testing
infantile
pubmed
infants
positive
variants
pseudodeficiency
clinical
13t
first
pathogenic
lysosomal
storage
disorders
assay
identified
therapy
genet
glucosidase
tier
gene
taiwan
crim
sequencing
symptoms
programs
analysis
diagnostic
dbs
aαglu
levels
activities
chien
patient
diagnosed
Year:
2021
Language:
english
File:
PDF, 7.96 MB
Your tags:
0
/
5.0
english, 2021
2
Pompe Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Philip M. Parker
gene
pompe
dna
pubmed
www.ncbi.nlm.nih.gov
genes
cmd
entrez
bstractplus
dopt
itool
list_uids
pubmed_docsum
query.fcgi
query_hl
retrieve
therapy
disorder
genetics
chromosome
disorders
national
testing
mutations
protein
chromosomes
mutation
clinical
proteins
glycogen
specific
journal
alpha
inherited
genome
person’s
storage
function
risk
tissue
glucosidase
muscle
molecular
search
resources
guidelines
enzyme
www.nlm.nih.gov
affected
factors
Year:
2007
Language:
english
File:
PDF, 1.19 MB
Your tags:
0
/
0
english, 2007
3
Metabolische, endokrine und medikamenteninduzierte Myopathien
Bookwire GmbH
Th. Klopstock
,
B. Schoser
,
Christian Gerloff
,
Thomas Brandt
,
Hans-Christoph Diener
myopathie
patienten
deficiency
carnitin
muscle
myopathien
neurol
therapie
typ
storage
muskelschwäche
glycogen
coq
führen
myopathies
engl
myopathy
pompe
clinical
mcardle
schoser
myoglobinurie
neurology
patients
rhabdomyolyse
therapy
behandlung
gene
glykogenosen
führt
glucosidase
glykogenose
lipid
meist
klinische
nebenwirkungen
sowie
effect
engel
induced
klopstock
onset
statin
emg
erhöhung
erkrankungen
kishnani
selten
supplementation
3rd
Year:
2013
Language:
german
File:
EPUB, 751 KB
Your tags:
0
/
0
german, 2013
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