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Search Results - Speeg-Spatz, Claude
Search Results - Speeg-Spatz, Claude
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Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
by
Fernández-Eulate, Gorka
,
Martin, Gilles C
,
Dureau, Pascal
,
Speeg-Spatz, Claude
,
Brassier, Anais
,
Gillard, Perrine
,
Bremond-Gignac, Dominique
,
Thouvenin, Dominique
,
Pagan, Cecile
,
Lamari, Foudil
,
Nadjar, Yann
Published in
Orphanet journal of rare diseases
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Orphanet Journal Of Rare Diseases
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Subjects
Adolescent
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Adult
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Age
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Bile Acids
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Biomarkers
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Cataract
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Cataracts
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Cerebrotendinous Xanthomatosis
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Chenodeoxycholic Acid
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Child
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Child, Preschool
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Children
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Cholestanol
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Cholesterol
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Congenital Diseases
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Diagnosis
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Diarrhea
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Disease
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Family Medical History
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