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Results of search for 'au:"Befekadu, A"'
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Authors
Befekadu, A
Berná, L
Böör, A
Cervenková, M
Elleder, M
Harzer, K
Hrebícek, M
Hulková, H
Hůlková, H
Jerábková, M
Ledvinová, J
Paton, B C
Poupetová, H
Rosewich, H
Schymik, N
Smíd, F
Tochácková, M
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Topics
Antigens, CD
Base Sequence
Brain
Codon
DNA Primers
Fatal Outcome
Female
Fibroblasts
Gangliosides
Glycolipids
Glycoproteins
Glycosphingolipids
Humans
Hydrolases
Infant, Newborn
Male
Saposins
deficiency
genetics
metabolism
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English
Your search returned 2 results.
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1.
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.
[electronic resource]
by
Elleder, M
Jerábková, M
Befekadu, A
Hrebícek, M
Berná, L
Ledvinová, J
Hůlková, H
Rosewich, H
Schymik, N
Paton, B C
Harzer, K
Producer:
20050929
In:
Neuropediatrics
vol. 36
Online resources:
Available from publisher's website
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No items available.
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2.
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
[electronic resource]
by
Hulková, H
Cervenková, M
Ledvinová, J
Tochácková, M
Hrebícek, M
Poupetová, H
Befekadu, A
Berná, L
Paton, B C
Harzer, K
Böör, A
Smíd, F
Elleder, M
Producer:
20010802
In:
Human molecular genetics
vol. 10
Online resources:
Available from publisher's website
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No items available.
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