المؤلفون: G Harris, IW Booth, DA Asplin, Anita MacDonald, G. W. Rylance, Kate Hall

المصدر: Acta Paediatrica. 83:73-74

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Constipation, Diet therapy, business.industry, Incidence, Infant, nutritional and metabolic diseases, Child Behavior Disorders, Feeding Behavior, General Medicine, Food Preferences, Feeding problems, Case-Control Studies, Child, Preschool, Phenylketonurias, Surveys and Questionnaires, Pediatrics, Perinatology and Child Health, medicine, Vomiting, Humans, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f8a4cb00663f082a52bd61b547b98e
https://doi.org/10.1111/j.1651-2227.1994.tb13457.x

المؤلفون: AK, Ewer, GM, Durbin, MEI, Morgan, IW, Booth

المصدر: Journal of Pediatric Gastroenterology & Nutrition; Oct1994, Vol. 19 Issue 3, p358-358, 1p

المؤلفون: SV, Beath, C, Holden, DA, Kelly, PJ, McKiernan, MS, Murphy, IW, Booth, AD, Mayer, JAC, Buckels

المصدر: Journal of Pediatric Gastroenterology & Nutrition; Oct1994, Vol. 19 Issue 3, p337-337, 1p

المؤلفون: Janecke AR; Department of Pediatrics I, Division of Human Genetics., Heinz-Erian P; Department of Pediatrics I., Yin J; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Petersen BS; Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel 24105, Germany., Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel 24105, Germany., Lechner S; Division of Human Genetics., Fuchs I; Department of Pediatrics I., Melancon S; Department of Medical Genetics, McGill University Health Centre, Montreal, Canada H3H 1P3., Uhlig HH; Translational Gastroenterology Unit, Nuffield Department of Medicine, and Children's Hospital, University of Oxford, Oxford OX3 9DU, UK., Travis S; Translational Gastroenterology Unit, Nuffield Department of Medicine, and Children's Hospital, University of Oxford, Oxford OX3 9DU, UK., Marinier E; Service des maladies digestives et respiratoires de l'enfant, Centre de référence des maladies digestives rares, Hôpital R Debré, Paris 75935, France., Perisic V; Department of Hepatology and GI Endoscopy, University Children's Hospital, Belgrade 11000, Serbia., Ristic N; Department of Hepatology and GI Endoscopy, University Children's Hospital, Belgrade 11000, Serbia., Gerner P; Zentrum für Kinder-und Jugendmedizin, Universitätsklinikum, Freiburg 79106, Germany., Booth IW; Paediatrics and Child Health, University of Birmingham, Birmingham B4 6NH, UK., Wedenoja S; Department of Medical Genetics, University of Helsinki, Helsinki 00014, Finland., Baumgartner N; Department of Internal Medicine, Medical University of Innsbruck, Innsbruck 6020, Austria., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Wien 1090, Austria., Frechette-Duval MC; Department of Pediatrics, Faculty of Medicine, Sherbrooke University, Sherbrooke, Canada J1H 5N4., De Lafollie J; Abteilung Allgemeine Pädiatrie & Neonatologie, Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Gießen 35392, Germany., Persad R; Stollery Children's Hospital, University of Alberta, Edmonton, Canada T6G 2B7., Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8., Tse CM; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Sud K; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Zachos NC; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Sarker R; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Zhu X; Department of Medicine, Albany Medical Center, Albany, NY 12208, USA., Muise AM; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8, Department of Biochemistry, Department of IMS, Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, University of Toronto, Toronto, ON, Canada M5G 1X8 and., Zimmer KP; Abteilung Allgemeine Pädiatrie & Neonatologie, Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Gießen 35392, Germany., Witt H; Pädiatrische Ernährungsmedizin, Else Kröner-Fresenius-Zentrum für Ernährungsmedizin, Technische Universität München, Freising-Weihenstephan 85350, Germany., Zoller H; Department of Internal Medicine, Medical University of Innsbruck, Innsbruck 6020, Austria., Donowitz M; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Müller T; Department of Pediatrics I, thomas.mueller@tirol-kliniken.at.

المصدر: Human molecular genetics [Hum Mol Genet] 2015 Dec 01; Vol. 24 (23), pp. 6614-23. Date of Electronic Publication: 2015 Sep 10.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Abnormalities, Multiple/*genetics , Diarrhea/*congenital , Metabolism, Inborn Errors/*genetics , Sodium-Hydrogen Exchangers/*genetics, Abnormalities, Multiple/metabolism ; Abnormalities, Multiple/physiopathology ; Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diarrhea/genetics ; Diarrhea/metabolism ; Diarrhea/physiopathology ; Female ; Genes, Recessive ; Humans ; Infant ; Infant, Newborn ; Inflammatory Bowel Diseases/genetics ; Inflammatory Bowel Diseases/metabolism ; Inflammatory Bowel Diseases/physiopathology ; Intestinal Mucosa/metabolism ; Intestines/physiopathology ; Male ; Metabolism, Inborn Errors/metabolism ; Metabolism, Inborn Errors/physiopathology ; Microvilli/metabolism ; Oligonucleotide Array Sequence Analysis ; Sodium-Hydrogen Exchanger 3 ; Young Adult

SCR Disease Name: Diarrhea 3, Secretory Sodium, Congenital

المؤلفون: Baum M; Department of Pediatrics, Mattel Children's Hospital, David Geffen School of Medicine at the University of California, Los Angeles, USA. Michel.Baum@UTSouthwestern.edu, Martin MG, Booth IW, Holmberg C, Twombley K, Zhang Q, Gattineni J, Moe O

المصدر: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2011 Nov; Vol. 53 (5), pp. 474-7.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8211545 Publication Model: Print Cited Medium: Internet ISSN: 1536-4801 (Electronic) Linking ISSN: 02772116 NLM ISO Abbreviation: J Pediatr Gastroenterol Nutr Subsets: MEDLINE

مواضيع طبية MeSH: Diarrhea/*pathology , Sequence Analysis, DNA/*methods , Sodium/*metabolism , Sodium-Hydrogen Exchangers/*genetics, Adult ; Animals ; Base Sequence ; Child ; Female ; Humans ; Hydrogen-Ion Concentration ; Infant ; Intestinal Mucosa/metabolism ; Male ; Mice ; Microvilli/genetics ; Microvilli/metabolism ; Molecular Sequence Data ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Sodium-Hydrogen Exchanger 3 ; Sodium-Hydrogen Exchangers/metabolism

المؤلفون: Hartley JL; Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental School, Institute of Biomedical Research, Edgbaston, Birmingham, UK. janehartley@doctors.org.uk, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER

المصدر: Gastroenterology [Gastroenterology] 2010 Jun; Vol. 138 (7), pp. 2388-98, 2398.e1-2. Date of Electronic Publication: 2010 Feb 20.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Carrier Proteins/*genetics , Diarrhea, Infantile/*genetics, Adolescent ; Blood Platelets/ultrastructure ; Child ; Computational Biology ; Diarrhea, Infantile/blood ; Female ; Humans ; Immunohistochemistry ; Infant ; Male ; Polymorphism, Single Nucleotide ; Sodium-Hydrogen Exchanger 3 ; Sodium-Hydrogen Exchangers/analysis ; Syndrome

المؤلفون: Heinz-Erian P; Department of Pediatrics II, Innsbruck Medical University, A-6020 Innsbruck, Austria., Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR

المصدر: American journal of human genetics [Am J Hum Genet] 2009 Feb; Vol. 84 (2), pp. 188-96. Date of Electronic Publication: 2009 Jan 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Diarrhea/*genetics , Malabsorption Syndromes/*genetics , Membrane Glycoproteins/*genetics , Sodium/*metabolism, Amino Acid Sequence ; Anus, Imperforate/genetics ; Anus, Imperforate/mortality ; Anus, Imperforate/pathology ; Base Sequence ; Chromosome Mapping ; Cohort Studies ; DNA Mutational Analysis ; Diarrhea/mortality ; Diarrhea/pathology ; Feces/chemistry ; Female ; Genes, Recessive ; Humans ; Infant ; Infant, Newborn ; Malabsorption Syndromes/mortality ; Malabsorption Syndromes/pathology ; Male ; Molecular Sequence Data ; Pedigree ; RNA, Messenger/genetics ; Survival Analysis

المؤلفون: Clarke SE; Dietetic Department, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK., Evans S, Macdonald A, Davies P, Booth IW

المصدر: Journal of human nutrition and dietetics : the official journal of the British Dietetic Association [J Hum Nutr Diet] 2007 Aug; Vol. 20 (4), pp. 329-39.

نوع المنشور: Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley on behalf of The British Dietetic Association Ltd., [c1988- Country of Publication: England NLM ID: 8904840 Publication Model: Print Cited Medium: Print ISSN: 0952-3871 (Print) Linking ISSN: 09523871 NLM ISO Abbreviation: J Hum Nutr Diet Subsets: MEDLINE

مواضيع طبية MeSH: Food, Fortified*, Energy Intake/*drug effects , Failure to Thrive/*diet therapy , Infant Formula/*administration & dosage , Infant, Low Birth Weight/*growth & development, Anthropometry ; Blood Urea Nitrogen ; Dietary Proteins/administration & dosage ; Energy Intake/physiology ; Female ; Humans ; Infant ; Infant Nutritional Physiological Phenomena/physiology ; Infant, Newborn ; Male ; Minerals/administration & dosage ; Treatment Outcome ; Vitamins/administration & dosage

المؤلفون: Evans S; Birmingham Children's Hospital, Birmingham, UK. evanss21@onetel.com, Daly A, MacDonald A, Davies P, Booth IW

المصدر: Archives of disease in childhood [Arch Dis Child] 2007 Jul; Vol. 92 (7), pp. 602-7. Date of Electronic Publication: 2007 Feb 21.

نوع المنشور: Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE

مواضيع طبية MeSH: Appetite/*physiology , Child Nutritional Physiological Phenomena/*physiology , Enteral Nutrition/*methods , Food, Formulated/*analysis, Anthropometry/methods ; Child ; Child, Preschool ; Cross-Over Studies ; Dietary Carbohydrates/administration & dosage ; Dietary Fats/administration & dosage ; Dietary Proteins/administration & dosage ; Eating ; Energy Intake/physiology ; Enteral Nutrition/adverse effects ; Female ; Food, Formulated/adverse effects ; Home Nursing/methods ; Humans ; Infant ; Male ; Prospective Studies

المؤلفون: Gupte GL; Liver Unit, Birmingham Children's Hospital, Birmingham, UK. girish.gupte@bch.nhs.uk, Beath SV, Protheroe S, Murphy MS, Davies P, Sharif K, McKiernan PJ, de Ville de Goyet J, Booth IW, Kelly DA

المصدر: Archives of disease in childhood [Arch Dis Child] 2007 Feb; Vol. 92 (2), pp. 147-52. Date of Electronic Publication: 2006 May 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE

مواضيع طبية MeSH: Intestinal Diseases/*surgery , Intestine, Small/*transplantation, Adolescent ; Bilirubin/blood ; Biomarkers/blood ; Child ; Child Nutritional Physiological Phenomena ; Child, Preschool ; Epidemiologic Methods ; Female ; Hirschsprung Disease/surgery ; Hirschsprung Disease/therapy ; Humans ; Infant ; Intestinal Diseases/therapy ; Liver Transplantation ; Male ; Parenteral Nutrition ; Patient Selection ; Prognosis ; Referral and Consultation ; Short Bowel Syndrome/surgery ; Short Bowel Syndrome/therapy ; Treatment Outcome