Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle disorder characterized by episodes of life-threatening hyperammonemia. Correct diagnosis is crucial for patient management, but is difficult to make from clinical presentation and conventional laboratory tests alone. Enzymatic or gen...

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Veröffentlicht in:	Journal of human genetics 2007-04, Vol.52 (4), p.349-354
Hauptverfasser:	Kurokawa, Keiji, Yorifuji, Tohru, Kawai, Masahiko, Momoi, Toru, Nagasaka, Hironori, Takayanagi, Masaki, Kobayashi, Keiko, Yoshino, Makoto, Kosho, Tomoki, Adachi, Masanori, Otsuka, Harumi, Yamamoto, Shigenori, Murata, Toshiaki, Suenaga, Akihito, Ishii, Tsutomu, Terada, Kihei, Shimura, Naoto, Kiwaki, Kohji, Shintaku, Haruo, Yamakawa, Masaru, Nakabayashi, Hiroki, Wakutani, Yosuke, Nakahata, Tatsutoshi
Format:	Artikel
Sprache:	eng
Schlagworte:	Asian Continental Ancestry Group - genetics Biomedicine Carbamoyl-Phosphate Synthase (Ammonia) - chemistry Carbamoyl-Phosphate Synthase (Ammonia) - genetics Carbamoyl-Phosphate Synthase I Deficiency Disease - diagnosis Carbamoyl-Phosphate Synthase I Deficiency Disease - genetics DNA Mutational Analysis Exons Female Gene Expression Gene Function Gene Therapy Human Genetics Humans Hyperammonemia Japan Linkage analysis Male Molecular Medicine Mutation Original Article Polymorphism, Genetic Prenatal diagnosis Urea
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