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cassandra mariet
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Decks in this class (20)
Dépistage néonatal
Nombre de maladies au depistage nn,
Maladies de base sur le depistage nn,
Clinique deficit en mcad
24
cards
Maladies lysosomales
Concept des maladies lysosomales,
Sous types de maladies lysosomales,
Organe des maladies lysosomales
20
cards
Maladies du perosysome
Role du peroxysome,
Clinique zellweger,
Clinique ald neonatale
8
cards
Adrénoleucodystrophie liée à l'X
Ald liee a l x mutation quel gene,
Ald liee a l x clinique,
Dosage biologique pour ald x
13
cards
maladies lysosomales neuro
Diagnostic biochimique maladie de...,
Diagnostic,
Diagnostic biochimique krabbe
16
cards
Créatine
Clinique de deficit en creatine,
Irmc deficit en creatine,
Diagnostic biochimique de deficit...
10
cards
GLUT1
Clinique classique de glut1,
Gene mute dans glut1,
Forme enfant de glut1
8
cards
CDG syndrome
Cdg syndrome anomalie a quelle etape,
Cdg syndrome quel organelle atteint,
Diagnostic cdg syndrome
9
cards
ataxies progressives
Frequence de la cerebellite varic...,
Devant ataxie a irmc normale quel...,
Deficit biotinidase 2 examens bio
25
cards
Dystonies
Structures en jeu pour les dystonies,
Dystonie sensible a la dopa gene,
Maladie de segawa quelle maladie
11
cards
Paraplégies spastiques héréditaires
Genes paraplegie spastique,
Classification des paraplegies sp...,
Spg4 tableau
5
cards
DMC et myopathies congénitales
Lama2 irm cpk clinique,
Dmc avec deficit en merosine gene,
Dmc avec hyperlaxite
20
cards
Dermatomyosite
Dermatomyosite sans signe inflamm...,
Anticorps severe de dermatomyosite,
F gravite de dermatomyosite
3
cards
Myotonie et canalopathies
Inverse des myotonies,
Traitement des myotonies,
Myotonie f aggravants calmants
16
cards
Leucodystrophies
Test pour atteinte du snp,
Irm de leucodystrophie evocatrice,
Pelizeus mezbacher gene
14
cards
Myopathies métaboliques
Deficit en enzyme trifonctionnelle,
Mcardle phenomene evocateur,
Mcardle nom
15
cards
encéphalopathies "curables"
Bilan pour epilepsie neonatale,
Traitement d epreuve epilepsie ne...,
Convulsion pyridoxin dependante c...
14
cards
maladies mitochondriales
Deficit en pdh lactate pyruvate c...,
Maladies mitochondriales a expres...,
Mot cle mitochondrie
22
cards
Neuropathies
Neuropathie precoce neonatale gen...,
Pmp22 quel type d atteinte,
Neuropathie precoce premiere chos...
11
cards
paralysie faciale
Bilan de paralysie faciale periph...,
B,
Pf a frigore etiolgie
5
cards
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