Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency

Pediatric Research

Volumn 56, Issue 4, 2004, Pages 608-614

  Tamamori, Akiko ^a   Fujimoto, Akie ^b   Okano, Yoshiyuki ^a   Kobayashi, Keiko ^c   Saheki, Takeyori ^c   Tagami, Yasuko ^d   Takei, Hazime ^e   Shigematsu, Yosuke ^f   Hata, Ikue ^f   Ozaki, Hajime ^g   Tokuhara, Daisuke ^a   Nishimura, Yutaka ^h   Yorifuji, Tohru ⁱ   Igarashi, Noboru ^j   Ohura, Toshihiro ^k   Shimizu, Takashi ^l   Inui, Koji ^m   Sakai, Norio ^m   Abukawa, Daiki ⁿ   Miyakawa, Takayuki ^o   Matsumori, Mika ^p   Ban, Kyoko ^q   Kaneko, Hiroaki ^r   Yamano, Tsunekazu ^a   more..

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

^b Osaka City Environment and Public Health Association   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

^d Sapporo City Institute of Public Health   (Japan)

^e Tokyo Association of Health Service   (Japan)

^f University of Fukui   (Japan)

^g Yodogawa Ward Pub Hlth/Welf Ctr   (Japan)

^h HIROSHIMA UNIVERSITY   (Japan)

ⁱ KYOTO UNIVERSITY HOSPITAL   (Japan)

^j TOYAMA PREFECTURAL CENTRAL HOSPITAL   (Japan)

^k TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^l Ureshino Medical Center   (Japan)

^m OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁿ MIYAGI CHILDREN S HOSPITAL   (Japan)

^o UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^p AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^q NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^r GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; CITRULLINE; ERIODICTYOL 7 O GLUCOSIDE; GALACTOSE; ISOLEUCINE; LEUCINE; METHIONINE; PHENYLALANINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; SERINE; TYROSINE; UNCLASSIFIED DRUG;

ARTICLE; BIRTH WEIGHT; CITRIN DEFICIENCY; CITRULLINEMIA; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRAHEPATIC CHOLESTASIS; LIVER MITOCHONDRION; MALE; MASS SCREENING; NEWBORN; NEWBORN SCREENING; PATHOGENESIS; PERINATAL PERIOD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SLC25A13 GENE;

AMINO ACIDS; BILE ACIDS AND SALTS; CHOLESTASIS, INTRAHEPATIC; CITRULLINEMIA; FEASIBILITY STUDIES; FEMALE; GALACTOSE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; NEONATAL SCREENING;

EID: 4644292957     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000139713.64264.BC     Document Type: Article

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