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PubPharm (76)
41
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis
enthalten in:
Journal of inherited metabolic disease
| 2017
von
Stelten, B.
|
Bonnot, O.
|
Huidekoper, H.
| +5
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42
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
enthalten in:
Journal of lipid research
| 2017
von
Vaz, F.
|
Bootsma, A.
|
Kulik, W.
| +5
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43
Extended Abstract : Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype
enthalten in:
Digestive diseases (Basel, Switzerland)
| 2017
von
Vaz, F.
|
Huidekoper, H.
|
Paulusma, C.
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44
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis : An available high-throughput liquid-chromatography tandem mass spectrometry method
enthalten in:
Molecular genetics and metabolism reports
| 2016
von
Bleyle, L.
|
Huidekoper, H.
|
Vaz, F.
| +3
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45
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis : implications for treatment
enthalten in:
European journal of pediatrics
| 2016
von
Huidekoper, H.
|
Vaz, F.
|
Verrips, A.
| +1
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46
Quantification of naive and memory T-cell turnover during HIV-1 infection
enthalten in:
AIDS (London, England)
| 2015
von
Vrisekoop, N.
|
Drylewicz, J.
|
Van Gent, R.
| +12
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47
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
enthalten in:
European journal of pediatrics
| 2015
von
Huidekoper, H.
|
Vaz, F.
|
Verrips, A.
| +1
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48
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
enthalten in:
European journal of pediatrics
| 2015
von
Huidekoper, H.
|
Vaz, F.
|
Verrips, A.
| +1
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49
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
enthalten in:
European journal of pediatrics
| 2015
von
Huidekoper, H.
|
Vaz, F.
|
Verrips, A.
| +1
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50
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders
enthalten in:
Journal of inherited metabolic disease
| 2015
von
Franik, S.
|
Huidekoper, H.
|
Visser, G.
| +9
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Journal of inherited metabolic disease
8
European journal of pediatrics
5
Journal of Inherited Metabolic Disease
3
BioDrugs
3
JIMD reports
3
Orphanet journal of rare diseases
2
Aids <London>
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Archives of disease in childhood
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Clinica chimica acta; international journal of ...
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Thema
37
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15
Research Support, Non-U.S. Gov't
7
Case Reports
6
Newborn screening
5
Blood Glucose
5
Carnitine
4
0GEI24LG0J
4
Cerebrotendinous xanthomatosis
4
Chenodeoxycholic Acid
4
Chenodeoxycholic acid
4
Hepatotoxicity
4
Infant
4
Treatment
3
CYP27A1
3
Carnitine Supplementation
3
Children
3
Chronic Progressive External Ophthalmoplegia
3
EC 3.2.1.20
3
Endogenous Glucose Production
3
Endogenous glucose production
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Erscheinungszeitraum
31
2020-
38
2010-2019
7
2000-2009
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