Universität zu Köln

Haumann, Sophie, Burgmaier, Kathrin, Bergmann, Carsten, Mueller, Roman Ulrich and Liebau, Max C. (2018). Hereditary cystic kidney diseases: autosomal dominant and autosomal recessive polycystic kidney disease (ADPKD and ARPKD). Med. Genet., 30 (4). S. 422 - 429. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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Abstract

Cystic kidney diseases are among the most important causes of end-stage renal disease in both children and adults. While the more frequent autosomal dominant polycystic kidney disease (ADPKD) typically becomes clinically manifest in adulthood, the rare autosomal recessive polycystic kidney disease (ARPKD) is an often severe disorder of early childhood. The growing insight into the underlying genetic changes and molecular disease mechanisms has recently led to the development of the first therapeutic options.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Haumann, Sophie UNSPECIFIED UNSPECIFIED UNSPECIFIED Burgmaier, Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Bergmann, Carsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Mueller, Roman Ulrich UNSPECIFIED UNSPECIFIED UNSPECIFIED Liebau, Max C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-162845
DOI:	10.1007/s11825-018-0224-0
Journal or Publication Title:	Med. Genet.
Volume:	30
Number:	4
Page Range:	S. 422 - 429
Date:	2018
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MUTATIONS; DIAGNOSIS; ENCODES; PROTEIN; PKHD1; GENE Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/16284