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

Journal of Human Genetics

Volumn 52, Issue 4, 2007, Pages 349-354

  Kurokawa, Keiji ^a   Yorifuji, Tohru ^a   Kawai, Masahiko ^a   Momoi, Toru ^b   Nagasaka, Hironori ^c   Takayanagi, Masaki ^c   Kobayashi, Keiko ^d   Yoshino, Makoto ^e   Kosho, Tomoki ^f   Adachi, Masanori ^g   Otsuka, Harumi ^h   Yamamoto, Shigenori ⁱ   Murata, Toshiaki ^j   Suenaga, Akihito ^k   Ishii, Tsutomu ^l   Terada, Kihei ^m   Shimura, Naoto ⁿ   Kiwaki, Kohji ^o   Shintaku, Haruo ^p   Yamakawa, Masaru ^q   Nakabayashi, Hiroki ^r   Wakutani, Yosuke ^s   Nakahata, Tatsutoshi ^a   more..

^a KYOTO UNIVERSITY HOSPITAL   (Japan)

^b JAPANESE RED CROSS WAKAYAMA MEDICAL CENTER   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

^e KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f SHINSHU UNIVERSITY HOSPITAL   (Japan)

^g KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^h Chiba Municipal Hospital   (Japan)

ⁱ SHIMOSHIZU HOSPITAL   (Japan)

^j FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^k Center for Gastroenterology and Liver Disease   (Japan)

^l FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^m KAWASAKI MEDICAL SCHOOL   (Japan)

ⁿ DOKKYO MEDICAL UNIVERSITY   (Japan)

^o KUMAMOTO UNIVERSITY   (Japan)

^p OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^q KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^r NIHON UNIVERSITY   (Japan)

^s TOTTORI UNIVERSITY   (Japan)

more..

Author keywords

Clinical presentation; CPS1 deficiency; Mutation

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; ENZYME DEFICIENCY; FAMILY; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; JAPAN; JAPANESE; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; PRENATAL DIAGNOSIS;

ASIAN CONTINENTAL ANCESTRY GROUP; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; JAPAN; MALE; MUTATION; POLYMORPHISM, GENETIC;

EID: 33947641461     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0122-9     Document Type: Article

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