Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis
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Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementDiagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis.Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry methodPsychiatric manifestations in cerebrotendinous xanthomatosis.A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.Myoclonus and dystonia in cerebrotendinous xanthomatosis.Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
P2860
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P2860
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis
description
2000 nî lūn-bûn
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2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2000 թվականի ապրիլին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@ast
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@en
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@nl
type
label
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@ast
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@en
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@nl
prefLabel
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@ast
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@en
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@nl
P2093
P3181
P1433
P1476
Presence of diarrhea and absen ...... cerebrotendinous xanthomatosis
@en
P2093
B G van Engelen
B M van Geel
F J Gabreëls
J R Cruysberg
L P van den Heuvel
R A Wevers
P3181
P356
10.1001/ARCHNEUR.57.4.520
P407
P577
2000-04-01T00:00:00Z