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Acidurie
Acidurie 3-méthylglutaconique type 3
Acidurie 3-méthylglutaconique type 7
Acidurie bêta-amino-isobutyrique
Acidurie hydroxybutyrique congénitale
Acidurie mévalonique
Amino-acidurie
Hyperamino-acidurie
Hyperaminoacidurie
Malabsorption de la méthionine
Maladie de Smith et Strang
Maladie des urines à odeur de houblon

Translation of "acidurie mévalonique " (French → English) :

acidurie mévalonique

A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
SNOMEDCT-BE (disorder) / 718558008
SNOMEDCT-BE (disorder) / 718558008


acidurie bêta-amino-isobutyrique

beta-amino-isobutyric aciduria
Appareil urinaire
Urinary Tract


acidurie hydroxybutyrique congénitale | maladie de Smith et Strang | maladie des urines à odeur de houblon | malabsorption de la méthionine

congenital hydroxybutyric aciduria | oasthouse urine disease | oasthouse disease | oasthouse-disease | methionine malabsorption syndrome
médecine > sémiologie et pathologie
médecine > sémiologie et pathologie


médecine > néphrologie et urologie
médecine > néphrologie et urologie


amino-acidurie | hyperaminoacidurie

acidaminuria | aminoaciduria
IATE - Health
IATE - Health


hyperamino-acidurie

aminosuria
IATE - Health
IATE - Health


amino-acidurie

amino-aciduria
IATE - Health
IATE - Health


acidurie 3-méthylglutaconique type 7

CLBP (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency
SNOMEDCT-BE (disorder) / 764860006
SNOMEDCT-BE (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency / 764860006


acidurie 3-méthylglutaconique type 3

Costeff syndrome
SNOMEDCT-BE (disorder) / 297232009
SNOMEDCT-BE (disorder) / 297232009


Acidurie arginino-succinique Argininémie Citrullinémie Hyperammoniémie

Argininaemia Argininosuccinic aciduria Citrullinaemia Hyperammonaemia
WORLD HEALTH ORGANIZATION ICD-10: E72.2
WORLD HEALTH ORGANIZATION ICD-10: E72.2




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acidurie mévalonique

Date index:2021-10-31 -

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