Mezo
Forum Elite
Topics: 7
Posts: 411
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" He, His Brother and Dupree are Watching X-men(Rated) in Father's LG tv.
Hemophilia A and B, Hunter's syndrome, Bruton's dse, Duchen Muscular dystrophy, Wiscott-Aldrich syndrome, Fabry's diease, Lesch-Nyhan syndrome, G6PD deficiency.
X-men Rated, for X link Recessive.
Fragile is not included as it is controversial, some say dominant, others say recessive and kaplan notes saying dominant
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Experience is what u get when don't get what u want to get
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| Mezo
Forum Elite
Topics: 7
Posts: 411
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No Man Picks ( Neimann Picks) his nose with hisSPHINGer (SPHINGomyelinae deficiency )
Tay-SaX ( Tay-Sachs) lacks HeXosaminidase
From FA
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Experience is what u get when don't get what u want to get
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| step1000
Forum Junior
Topics: 12
Posts: 33
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I m having hard time to memorize vitA tox. help please, anyone?
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| KARIME
Forum Newbie
Topics: 0
Posts: 108
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Just a couple about lysosomal storage diseases:
"Fabry's Game Not Too Kind, Makes Him Hide"
Fabry's disease, Gaucher's disease, Niemann-Pick disease, Tay-Sachs disease,
Krabbe's disease, Metachromatic leukodystrophy, Hurler's syndrome, Hunter's syndrome
A way to differenciate between Hurler's and Hunter's syndromes both accumulate Heparan and dermatan sulfate)
HURLER: developmental delay, gargolylsm, airway obstruction, corneal clouding,
alfa-L-iduronidase deficiency
HUNTER: Mild Hurler's + more aggressive behavior, no corneal clouding.
(as a hunter you need to be aggressive and you need an eagle's gaze (clear cornea)
IduronaTe sulfaTase deficiency.
(List and details from FA)
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Eterea
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