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Results of search for 'au:"Muschol, N"'
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Authors
Atiskova, Y
Avanesov, M
Budde, U
Burgard, P
Christensen, E
Dulz, S
Garbade, S F
Golsari, A
Haas, D
Hoffmann, G F
Koehn, A F
Lukacs, Z
Merkel, M
Muschol, N
Mühlhausen, C
Münch, J
Patten, M
Penzien, J M
Ullrich, K
du Moulin, M
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Topics
Adolescent
Adult
Antigens
Blood Coagulation
Blood Coagulation Tests
Blood Platelets
Brain
Child
Child, Preschool
Cholesterol
Fabry Disease
Female
Genotype
Humans
Infant
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Mutation
Phenotype
alpha-Galactosidase
genetics
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English
Your search returned 5 results.
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1.
p.D313Y is more than just a polymorphism in Fabry disease.
[electronic resource]
by
du Moulin, M
Muschol, N
Producer:
20190806
In:
Clinical genetics
vol. 93
Online resources:
Available from publisher's website
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2.
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
[electronic resource]
by
Mühlhausen, C
Christensen, E
Schwartz, M
Muschol, N
Ullrich, K
Lukacs, Z
Producer:
20040728
In:
Journal of inherited metabolic disease
vol. 26
Online resources:
Available from publisher's website
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No items available.
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3.
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.
[electronic resource]
by
Mühlhausen, C
Schneppenheim, R
Budde, U
Merkel, M
Muschol, N
Ullrich, K
Santer, R
Producer:
20060705
In:
Journal of inherited metabolic disease
vol. 28
Online resources:
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No items available.
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4.
The mutation p.D313Y is associated with organ manifestation in Fabry disease.
[electronic resource]
by
du Moulin, M
Koehn, A F
Golsari, A
Dulz, S
Atiskova, Y
Patten, M
Münch, J
Avanesov, M
Ullrich, K
Muschol, N
Producer:
20180528
In:
Clinical genetics
vol. 92
Online resources:
Available from publisher's website
Availability:
No items available.
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5.
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
[electronic resource]
by
Haas, D
Garbade, S F
Vohwinkel, C
Muschol, N
Trefz, F K
Penzien, J M
Zschocke, J
Hoffmann, G F
Burgard, P
Producer:
20070817
In:
Journal of inherited metabolic disease
vol. 30
Online resources:
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