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Journal of Inherited Metabolic Disease|August 7, 2008
Profiling of astrocyte properties in the hyperammonaemic brain: shedding new light on the pathophysiology of the brain damage in hyperammonaemiaU Lichter-Konecki
Human Genetics|August 1, 1991
The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populationsD S Konecki, U Lichter-Konecki
Human Genetics|September 1, 1994
DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of allelesU Lichter-Konecki, M Schlotter, D S Konecki
Molecular Genetics and Metabolism|August 13, 1999
Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissuesU Lichter-Konecki, C M Hipke, D S Konecki
Biochemical and Biophysical Research Communications|November 30, 1994
Complete cDNA sequence of human lysosome-associated membrane protein-2D S Konecki, K Foetisch, M Schlotter, et al.
Human Genetics|August 1, 1991
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuriaD S Konecki, M Schlotter, F K Trefz, et al.
European Journal of Pediatrics|November 1, 1989
Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of GermanyU Lichter-Konecki, M Schlotter, F K Trefz, et al.
Pediatric Hematology and Oncology|January 1, 1987
Changes in the EEG background activity of children with acute lymphoblastic leukemia during cytotoxic therapyU Lichter-Konecki, C Benninger, W E Brandeis, et al.
American Journal of Human Genetics|November 25, 2000
Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3U Lichter-Konecki, K W Broman, E B Blau, et al.
Biochemical and Biophysical Research Communications|October 13, 1995
An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific mannerD S Konecki, K Foetisch, K P Zimmer, et al.
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