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Book Chapter
Series: Contributions to Nephrology
Volume: 192
Published: 08 February 2018
10.1159/000484279
EISBN: 978-3-318-06251-9
... the conclusion that urate-lowering therapy with allopurinol retards the progression of CKD. The target level of serum UA if treated is another issue of debate. Our recent analysis by propensity score analysis has shown that the serum UA should be targeted below 6.0 mg/dL to inhibit the progression towards end...
Book
Series: Karger Continuing Education Series
Volume: 2
Published: 25 October 1982
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287599
EISBN: 978-3-8055-9281-9
... Abstract Advances in gene discovery methodologies and the analysis of samples from large cohorts of families have rapidly increased our knowledge of the number of genes that cause mental retardation. To date, over 80 genes on the X chromosome have been identified where a mutation results...
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Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287593
EISBN: 978-3-8055-9281-9
... Abstract Mental retardation (MR) is a widely used term but a contentious one. There is still a quest for appropriate terminology that does not associate with negative perceptions of affected individuals and yet is accurate in terms of nosology. Also controversial is the most appropriate...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287595
EISBN: 978-3-8055-9281-9
... Abstract Mental retardation (MR) has many different genetic causes, ranging from single gene to whole-chromosome changes. Some of the chromosomal changes underlying MR are recurrent submicroscopic deletions and duplications. These events result from non-allelic homologous recombination...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287597
EISBN: 978-3-8055-9281-9
... Abstract Mental retardation (MR) is a highly heterogeneous human trait as a consequence of the very large number of human genes that play a role in learning, memory and cognition. While environmental influences can cause MR, gene mutation and structural rearrangement of the genome are now...
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Series: Medicine and Sport Science
Volume: 40
Published: 15 August 1995
10.1159/isbn.978-3-318-03954-2
EISBN: 978-3-318-03954-2
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