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def.:
def.:

def~inition
~definition

coproporphyrinogn oxid def
koproporfyri, ärftlig

pfk - phosphofructokinase def
glykogenupplagringssjukdom typ vii

com (2004) 410 def.
kom(2004) 410 slutlig.

acylsphingosine deacylase def
farbers lipogranulomatos

ventricular septal def.
ventrikelseptumdefekter

at def - antithrombin defi
antitrombin iii-brist

septal def.-ventricular
ventrikelseptumdefekter

endocard cushion def nos
endokardiell cushion-defekt

7-dehydrocholest reductase def
smith-lemli-opitz syndrom

alpha-1-antitrypsin def
alfa 1-antitrypsinbrist

phosphat 4,5 bisph5phosph def
okulocerebrorenalt syndrom

add-attn def dis with hyperact
adhd

congen hypothy not iodine def
medfödd hypotyreos

cdg-carbohyd-def glycprot synd
cdg-syndrom

branch chain ketoac dehydr def
lönnsirapssjuka

n-acetylgalactosam-4-sulph def
mukopolysackaridos vi

complete hypoxanthine-guanine phosphoribosyltransferase def
lesch-nyhans syndrom

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