作者：Eriko Fujita-Jimbo (1) (2)
Yuko Tanabe (2)
Zhiling Yu (1) (3)
Karin Kojima (1)
Masato Mori (1)
Hong Li (1) (4)
Sadahiko Iwamoto (5)
Takanori Yamagata (1)
Mariko Y Momoi (1) (2)
Takashi Momoi (2)

1. Department of Pediatrics ; Jichi Medical University ; 3311-1 Yakushiji ; Shimotsuke-shi ; Tochigi ; 3290498 ; Japan
2. Medical Research Center ; International University of Welfare and Health ; 2600-1 Kitakanemaru ; Ohtawara ; 3248501 ; Japan
3. Department of Pediatrics ; Shengjing Hospital of China Medical University ; 36 Sanhao Street ; Heping District ; Shenyang ; 100004 ; Liaoning ; China
4. Medical Biochemical Genetics ; Harvard Medical School ; 25 Shattuck Street ; Boston ; MA ; 02115 ; USA
5. Division of Human Genetics ; Center for Molecular Medicine ; Jichi Medical University ; 3311-1 Yakushiji ; Shimotsuke-shi ; Tochigi ; 3290498 ; Japan

关键词：Autism spectrum disorder ; ASD ; GPCR ; ER stress ; Synaptic receptors ; GPR85

刊名：Molecular Autism

出版年：2015

作者：Kenya Kamimura (1)
Hiroyuki Abe (1)
Naomi Kamimura (2)
Masayuki Yamaguchi (2)
Maiko Mamizu (1)
Kanna Ogi (2)
Yoshifumi Takahashi (1)
Ken-ichi Mizuno (1)
Hiroteru Kamimura (1)
Yuji Kobayashi (1)
Manabu Takeuchi (1)
Kunihiko Yoshida (2)
Kyoko Yamada (2)
Takayuki Enomoto (2)
Koichi Takakuwa (3)
Minoru Nomoto (1)
Miki Obata (4)
Yoshinori Katsuragi (4)
Yukio Mishima (4)
Ryo Kominami (4)
Tomoteru Kamimura (5)
Yutaka Aoyagi (1)

1. Division of Gastroenterology and Hepatology ; Graduate School of Medical and Dental Sciences ; Niigata University ; 1-757 Asahimachido-ri ; Chuo-ku ; Niigata ; 951-8510 ; Japan
2. Department of Obstetrics and Gynecology ; Niigata University Medical and Dental Hospital ; 1-754 Asahimachido-ri ; Chuo-ku ; Niigata ; 951-8510 ; Japan
3. General Center for Perinatal ; Maternal and Neonatal Medicine ; Niigata University Hospital of Medical and Dental Sciences ; 1-754 Asahimachido-ri ; Chuo-ku ; Niigata ; 951-8520 ; Japan
4. Department of Molecular Genetics ; Graduate School of Medical and Dental Sciences ; Niigata University ; 1-757 Asahimachido-ri ; Chuo-ku ; Niigata ; 951-8510 ; Japan
5. Department of Gastroenterology and Hepatology ; Saiseikai Niigata Daini Hospital ; 280-7 Teraji ; Nishi-ku ; Niigata ; 950-1104 ; Japan

关键词：Intrahepatic cholestasis of pregnancy ; Bile acid ; Ursodeoxycholic acid ; Single ; nucleotide polymorphism ; ABCB11 ; ABCB4

刊名：BMC Gastroenterology

出版年：2014

作者：Regina M Leadley (1)
Shona Lang (1)
Kate Misso (1)
Trudy Bekkering (2)
Janine Ross (1)
Takeyuki Akiyama (3)
Michael Fietz (4)
Roberto Giugliani (5)
Chris J Hendriksz (6)
Ngu Lock Hock (7)
Jim McGill (8)
Andrew Olaye (9)
Mohit Jain (10)
Jos Kleijnen (1) (11)

1. Kleijnen Systematic Reviews ; Unit 6 ; Escrick Business Park ; Escrick ; York ; YO19 6FD ; UK
2. BeSyReBekkering Systematic Reviews ; Geel ; Belgium
3. Japan society of patients and families with Mucopolysaccharidoses ; 2-37-3 ; Minamisyojyaku ; Suita-Shi ; Osaka ; 564-0012 ; Japan
4. Department of Biochemical Genetics ; SA Pathology (at WCH) ; 72 King William Road ; North Adelaide ; SA ; 5006 ; Australia
5. Chief of the Medical Genetics Service ; Clinic Hospital of Porto ; Porto Alegre ; Rio Grande do Sul ; Brazil
6. Clinical lead- Adult Inherited Metabolic Disorders ; Consultant Transitional Metabolic Medicine ; Manchester Academic Health Science Centre ; The Mark Holland Metabolic Unit ; Salford Royal Foundation NHS Trust ; Ladywell NW2- 2nd Floor Room 107 ; Salford ; Manchester ; M6 8H ; UK
7. Consultant Pediatrician and Clinical Geneticist ; Clinical Genetics & Metabolic Department ; Kuala Lumpur Hospital ; Jalan Pahang ; Kuala Lumpur ; 50586 ; Malaysia
8. Metabolic physician and Clinical geneticist Department of Metabolic Medicine ; Royal Children鈥檚 Hospital ; Brisbane ; Australia
9. Snr Market Access Manager EUMEA ; BioMarin Europe Ltd ; 164 Shaftesbury Ave ; London ; WC2H 8HL ; United Kingdom
10. Market Access & Public Policy EUMEA BioMarin Europe Ltd ; 164 Shaftesbury Ave ; London ; WC2H 8HL ; United Kingdom
11. School for Public Health and Primary Care (CAPHRI) ; Maastricht University ; Maastricht ; Netherlands

关键词：Mucopolysaccharidoses type A ; Morquio A ; MPS IVA ; Epidemiology ; Prevalence ; Incidence

刊名：Orphanet Journal of Rare Diseases

出版年：2014