المؤلفون: Sumathi Natarajan, Ravindar Kashyap, Saira Rajan, Dhivakar Muthusamy

المصدر: The Egyptian Journal of Radiology and Nuclear Medicine, Vol 55, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Hemochromatosis, Iron overload, Liver, Thyroid, MRI, Tricho-hepato-enteric syndrome, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-4762

URL الوصول: https://doaj.org/article/6e52770de8cd4d948c1b095aaa27d7a6

المؤلفون: Е. А. Roslavtseva, Т. E. Borovik, Е. G. Tsimbalova, А. О. Anushenko, А. S. Potapov, М. М. Lokhmatov, I. L. Chashchina, М. D. Bakradze

المصدر: Вопросы современной педиатрии, Vol 14, Iss 3, Pp 416-421 (2015)

مصطلحات موضوعية: malabsorption syndrome, intestinal failure, parenteral, enteral nutrition, tricho-hepato-enteric syndrome, syndromic (phenotypic) diarrhea, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/709; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

URL الوصول: https://doaj.org/article/64338c96cf0546b997e50b28f9330d76

المؤلفون: Michaux, Grégoire, Massey-Harroche, Dominique, Nicolle, Ophélie, Rabant, Marion, Brousse, Nicole, Goulet, Olivier, Le Bivic, André, Ruemmele, Frank M

المساهمون: Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Interactions de l'épithelium intestinal et du système immunitaire (UMR_S 793), Institut National de la Recherche Agronomique (INRA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-10-INSB-04-01, Agence Nationale de la Recherche, ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011), ANR-10-INBS-0004,France-BioImaging,Développment d'une infrastructure française distribuée coordonnée(2010)

المصدر: ISSN: 0248-4900.

مصطلحات موضوعية: MVID, Membrane traffic, Epithelial polarity, Celiac disease, Myo5B, Tricho-hepato-enteric syndrome, [SDV]Life Sciences [q-bio], [SDV.BC]Life Sciences [q-bio]/Cellular Biology

Relation: info:eu-repo/semantics/altIdentifier/pmid/26526116; hal-01231419; https://univ-rennes.hal.science/hal-01231419; https://univ-rennes.hal.science/hal-01231419/document; https://univ-rennes.hal.science/hal-01231419/file/Localisation%20of%20the%20apical%20Par_accepted.pdf; PUBMED: 26526116

الاتاحة: https://univ-rennes.hal.science/hal-01231419
https://univ-rennes.hal.science/hal-01231419/document
https://univ-rennes.hal.science/hal-01231419/file/Localisation%20of%20the%20apical%20Par_accepted.pdf
https://doi.org/10.1111/boc.201500034

المؤلفون: РОСЛАВЦЕВА ЕЛЕНА АЛЕКСАНДРОВНА, БОРОВИК Т.Э., ЦИМБАЛОВА Е.Г., АНУШЕНКО А.О., ПОТАПОВ А.С., ЛОХМАТОВ М.М., ЧАЩИНА И.Л., БАКРАДЗЕ М.Д.

مصطلحات موضوعية: СИНДРОМ МАЛЬАБСОРБЦИИ,MALABSORPTION SYNDROME,КИШЕЧНАЯ НЕДОСТАТОЧНОСТЬ,INTESTINAL FAILURE,ПАРЕНТЕРАЛЬНОЕ,PARENTERAL,ЭНТЕРАЛЬНОЕ ПИТАНИЕ,ENTERAL NUTRITION,ТРИХОГЕПАТОЭНТЕРАЛЬНЫЙ СИНДРОМ,TRICHO-HEPATO-ENTERIC SYNDROME,СИНДРОМНАЯ (ФЕНОТИПИЧЕСКАЯ) ДИАРЕЯ,SYNDROMIC (PHENOTYPIC) DIARRHEA

وصف الملف: text/html

الاتاحة: http://cyberleninka.ru/article/n/sluchai-trihogepatoenteralnogo-sindroma-sindromnoy-diarei-oslozhnennogo-kronopodobnym-zabolevaniem
http://cyberleninka.ru/article_covers/16681551.png

المؤلفون: Ali S Alshamrani, Ahmed Al Sarkhy, Ali Asery, Aziz Alanazi, Mohammed Hasosah, Musa Khormi, Badr Alsaleem, Amna Basheer M. Ahmed, Maher M Al Hatlani, Khalid A Alghamdi, Abulrahman A Alhussaini, Muhanad Alruwaithi

المصدر: Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association. 28(2)

مصطلحات موضوعية: Diarrhea, Pediatrics, medicine.medical_specialty, Fetal Growth Retardation, Psychomotor retardation, business.industry, Gastroenterology, Saudi Arabia, Intrauterine growth restriction, Facies, medicine.disease, Tricho-hepato-enteric syndrome, Short stature, Parenteral nutrition, Skin hyperpigmentation, Diarrhea, Infantile, Medicine, Humans, Female, medicine.symptom, business, Hair Diseases, Exome sequencing, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edcbbdc02d80fa49c0cc95d91d153049
https://pubmed.ncbi.nlm.nih.gov/34414925

المؤلفون: Diane E. Lorant, Kok Lim Kua

المصدر: Clinical Case Reports and Reviews. 7

مصطلحات موضوعية: Enterocolitis, medicine.medical_specialty, business.industry, General Medicine, General Chemistry, medicine.disease, Tricho-hepato-enteric syndrome, Gastroenterology, Sepsis, Fulminate, chemistry.chemical_compound, chemistry, Internal medicine, medicine, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f584153d8efb2bad59de87328364511d
https://doi.org/10.15761/ccrr.1000498

المؤلفون: Fabre Alexandre, Martinez-Vinson Christine, Goulet Olivier, Badens Catherine

المصدر: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 5 (2013)

مصطلحات موضوعية: SKI COMPLEX, SKIV2L, TTC37, WDR61, SKI3, SKI2, SKI8, Intractable diarrhea, Syndromic diarrhea, Tricho-hepato-enteric syndrome, Woolly hair, Medicine

Relation: http://www.ojrd.com/content/8/1/5; https://doaj.org/toc/1750-1172; https://doaj.org/article/2d7e52f833de43d781edfa6dac882e06

الاتاحة: https://doi.org/10.1186/1750-1172-8-5
https://doaj.org/article/2d7e52f833de43d781edfa6dac882e06

المؤلفون: Joshua McElwee, Yael Haberman, Joseph C. Maranville, Dror S. Shouval, Ortal Barel, Lael Werner, Michal Sperber, Batia Weiss, Michael Field, Iris Barshack, Yair Anikster, Moran Nunberg, Iddo Vardi, Raz Somech, Gideon Rechavi, Michael Schvimer, Jodie Ouahed, Avishay Lahad, D. Marek-Yagel, Scott B. Snapper

المصدر: Digestive Diseases and Sciences. 63:1192-1199

مصطلحات موضوعية: Genetic Markers, 0301 basic medicine, medicine.medical_specialty, Physiology, Mutation, Missense, medicine.disease_cause, Article, 03 medical and health sciences, Liver disease, Internal medicine, Exome Sequencing, medicine, Humans, Immunodeficiency, Genetics, Mutation, Fetal Growth Retardation, business.industry, DNA Helicases, Gastroenterology, Facies, Infant, Hepatology, medicine.disease, Tricho-hepato-enteric syndrome, Phenotype, Diarrhea, 030104 developmental biology, Diarrhea, Infantile, Primary immunodeficiency, Female, medicine.symptom, Hair Diseases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f68b85ce51636d1947d4622f4e87458f
https://doi.org/10.1007/s10620-018-4983-x

المؤلفون: Charlene Chaix, Patrice Bourgeois, Catherine Badens, Alexandre Fabre, Nicolas Lévy, Christophe Béroud, Clothilde Esteve

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de référence maladie rare Thalassémie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Human Mutation
Human Mutation, Wiley, 2018, 39 (6), pp.774-789. ⟨10.1002/humu.23418⟩
Human Mutation, 2018, 39 (6), pp.774-789. ⟨10.1002/humu.23418⟩

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, intractable diarrhea, Disease, Biology, TTC37, 03 medical and health sciences, SKIV2L, Genetics, medicine, Humans, Enteropathy, Gene, Genetics (clinical), Fetal Growth Retardation, Clinical pathology, DNA Helicases, Facies, medicine.disease, Phenotype, Tricho-hepato-enteric syndrome, Pathophysiology, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Codon, Nonsense, enteropathy, Diarrhea, Infantile, Mutation, Cohort, Female, Carrier Proteins, Hair Diseases, Tricho-Hepato-Enteric Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2958108c825fbb80d6a396949d22f4ee
https://hal-amu.archives-ouvertes.fr/hal-01876433

المؤلفون: Alexandre Fabre, Catherine Badens

المصدر: Intractable & Rare Diseases Research. 2014, 3(1):8

المؤلفون: Christina Ong, Wilson Lek Wen Tan, Roger Foo, Mark Koh Jean Aan, Koh Cheng Thoon, Jin Ho Chong, Ene-Choo Tan, Ee Shien Tan, Saumya Shekhar Jamuar, Yu-Lung Lau, Angeline Lai, Woei Kang Liew

المصدر: European Journal of Pediatrics. 174:1405-1411

مصطلحات موضوعية: Pathology, medicine.medical_specialty, DNA Mutational Analysis, Retrognathia, medicine, Humans, Genetic Testing, Exome sequencing, Genetic testing, Low-set ears, Fetal Growth Retardation, medicine.diagnostic_test, business.industry, Facies, DNA, medicine.disease, Tricho-hepato-enteric syndrome, Dermatology, Parenteral nutrition, Hair disease, Child, Preschool, Diarrhea, Infantile, Mutation, Pediatrics, Perinatology and Child Health, Failure to thrive, Female, medicine.symptom, Carrier Proteins, Hair Diseases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7e4b7f40db34a5fcbfd1a739c65016
https://doi.org/10.1007/s00431-015-2563-z

المؤلفون: Bourgeois, Patrice, Esteve, Clothilde, Chaix, Charlene, Béroud, Christophe, Levy, Nicolas, Fabre, Alexandre, Badens, Catherine, Consortium, Thes Clinical

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie multidisciplinaire Hôpital de la Timone Enfants - APHM, Hôpital de la Timone CHU - APHM (TIMONE), Centre de référence maladie rare Thalassémie, Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE), ANR-15-CE17-0017,THE-RNA,Syndrome tricho-hépato-entérique des anomalies de la dégradation des ARN à un syndrome(2015)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: enteropathy, SKIV2L, intractable diarrhea, Tricho-Hepato-Enteric Syndrome, TTC37, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

الاتاحة: https://amu.hal.science/hal-01876433
https://doi.org/10.1002/humu.23418

المؤلفون: Fabre, Alexandre, Petit, Laëtitia Marie, Hansen, Lars F, Wewer, Anne V, Esteve, Clothilde, Chaix, Charlène, Bourgeois, Patrice, Badens, Catherine, Paerregaard, Anders

المصدر: ISSN: 1552-4825 ; American Journal of Medical Genetics. A, vol. 176, no. 3 (2018) p. 727-732.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Alleles, Carrier Proteins/genetics, Child, Preschool, Diarrhea/congenital/diagnosis, Family, Female, Genotype, Humans, Infant, Male, Mutation, Pedigree, Phenotype, Siblings, Syndrome, Ski3, Ski complex, SKIV2L, Syndromic diarrhea, Tricho-hepato-enteric syndrome, TTC37

Relation: info:eu-repo/semantics/altIdentifier/pmid/29383842; https://archive-ouverte.unige.ch/unige:128592; unige:128592

الاتاحة: https://archive-ouverte.unige.ch/unige:128592

المؤلفون: Céline Roman, Catherine Badens, Patrice Bourgeois, Marie-Edith Coste, Vincent Barlogis, Alexandre Fabre

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM], Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hématologie pédiatrique [AP-HM Hôpital de la Timone], Assistance Publique - Hôpitaux de Marseille (APHM)-Université de la Méditerranée - Aix-Marseille 2- Hôpital de la Timone [CHU - APHM] (TIMONE), Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Gall, Valérie

المصدر: Intractable & Rare Diseases Research
Intractable & Rare Diseases Research, J-STAGE, 2017, 6 (3), pp.152-157. ⟨10.5582/irdr.2017.01040⟩
Intractable & Rare Diseases Research, 2017, 6 (3), pp.152-157. ⟨10.5582/irdr.2017.01040⟩

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.drug_class, medicine.medical_treatment, Antibiotics, Hematopoietic stem cell transplantation, Review, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, TTC37, very early onset IBD, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, SKIV2L, Internal medicine, medicine, Diminution, biology, business.industry, General Medicine, medicine.disease, Tricho-hepato-enteric syndrome, 3. Good health, Diarrhea, 030104 developmental biology, Parenteral nutrition, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, 030211 gastroenterology & hepatology, Antibody, medicine.symptom, business, Rare disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d26009c33482b2c41d77527ea933fe
https://europepmc.org/articles/PMC5608923/

المؤلفون: Ikuo Okafuji, Minoru Matsuura, Takahiro Yasumi, Kazushi Izawa, Ryuta Nishikomori, Tohru Yorifuji, Toshio Heike, Hiroshi Nakase, Eitaro Hiejima, Yusuke Honzawa, Tomoki Kawai, Takayuki Tanaka, Hirokazu Higuchi

المصدر: Medicine

مصطلحات موضوعية: 0301 basic medicine, Parenteral Nutrition, Cirrhosis, Normal diet, Blotting, Western, Physiology, Diagnosis, Differential, 03 medical and health sciences, Liver disease, Japan, SKIV2L, tricho-hepato-enteric syndrome, Trimethoprim, Sulfamethoxazole Drug Combination, medicine, Humans, Clinical Case Report, flow cytometric analysis, Hypertelorism, Fetal Growth Retardation, Placental abruption, type i interferon signature, business.industry, Trichorrhexis nodosa, DNA Helicases, Infant, Newborn, Facies, General Medicine, Flow Cytometry, medicine.disease, Tricho-hepato-enteric syndrome, 030104 developmental biology, Otitis, Codon, Nonsense, Diarrhea, Infantile, Female, medicine.symptom, Hair Diseases, business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c066c059877faa7c4993ca459753d65f
https://doi.org/10.1097/md.0000000000008601

المؤلفون: Anne Breton, Catherine Badens, Nicolas André, Alexandre Fabre, Bertrand Roquelaure, Pierre Broué

المصدر: American Journal of Medical Genetics Part A. :584-588

مصطلحات موضوعية: Male, medicine.medical_specialty, Iron, Disease, Diagnosis, Differential, Facial dysmorphism, Terminology as Topic, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), business.industry, Liver Diseases, Trichorrhexis nodosa, Infant, Syndrome, medicine.disease, Dermatology, Phenotype, Tricho-hepato-enteric syndrome, Diarrhea, Parenteral nutrition, Face, Diarrhea, Infantile, Differential diagnosis, medicine.symptom, business, Hair

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d352a1b0838da85adf7816ca0d806a6f
https://doi.org/10.1002/ajmg.a.31634

المؤلفون: Ewa A. Naim, Brian F. Meyer, Mohamed Abouelhoda, Banan Al-Younes, Zuhair Rahbeeni, Ali Al-Mehaidib, Dorota Monies

المصدر: Journal of pediatric gastroenterology and nutrition. 60(3)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Saudi Arabia, Cohort Studies, Consanguinity, Young Adult, Hyperpigmentation, Molecular genetics, medicine, Humans, Allele, Child, Alleles, Genetics, Family Health, Fetal Growth Retardation, Genetic heterogeneity, business.industry, Gastroenterology, DNA Helicases, Facies, medicine.disease, Tricho-hepato-enteric syndrome, Phenotype, Diarrhea, Amino Acid Substitution, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Diarrhea, Infantile, Mutation, Allelic heterogeneity, Female, medicine.symptom, Differential diagnosis, business, Hair Diseases, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d89c3486f070e4e6594a321c51b76a4
https://pubmed.ncbi.nlm.nih.gov/25714577

المصدر: Вопросы современной педиатрии.

مصطلحات موضوعية: СИНДРОМ МАЛЬАБСОРБЦИИ,MALABSORPTION SYNDROME,КИШЕЧНАЯ НЕДОСТАТОЧНОСТЬ,INTESTINAL FAILURE,ПАРЕНТЕРАЛЬНОЕ,PARENTERAL,ЭНТЕРАЛЬНОЕ ПИТАНИЕ,ENTERAL NUTRITION,ТРИХОГЕПАТОЭНТЕРАЛЬНЫЙ СИНДРОМ,TRICHO-HEPATO-ENTERIC SYNDROME,СИНДРОМНАЯ (ФЕНОТИПИЧЕСКАЯ) ДИАРЕЯ,SYNDROMIC (PHENOTYPIC) DIARRHEA

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2806::c8bfac1c63b1dbe0f7c4cc93ba2e921e
http://cyberleninka.ru/article/n/sluchai-trihogepatoenteralnogo-sindroma-sindromnoy-diarei-oslozhnennogo-kronopodobnym-zabolevaniem

المؤلفون: Mutaz Sultan, Sara Abu-Rmeileh, Bassam Abu-Libdeh, Imad Dweikat, Tareq Hindi, Nizar Maraqa

المصدر: American Journal of Medical Genetics Part A. :581-583

مصطلحات موضوعية: medicine.medical_specialty, Iron, Gastroenterology, Diagnosis, Differential, Fatal Outcome, Internal medicine, Genetics, medicine, Neonatal hemochromatosis, Humans, Abnormalities, Multiple, Hypertelorism, Genetics (clinical), Hemochromatosis, business.industry, Liver Diseases, Infant, Syndrome, medicine.disease, Tricho-hepato-enteric syndrome, Diarrhea, Endocrinology, Parenteral nutrition, Face, Karyotyping, Diarrhea, Infantile, Failure to thrive, Female, Differential diagnosis, medicine.symptom, business, Hair

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2998efec2966e8cc18fc3e2374b7acb7
https://doi.org/10.1002/ajmg.a.31583

المؤلفون: Christine Martinez-Vinson, Alexandre Fabre, Bertrand Roquelaure, Olivier Goulet, Julie Lemale, Anne Breton, Catherine Badens, Béatrice Dubern, Julien Mancini, Jacques Sarles, Evelyne Marinier, Aude Venaille, Marie-Edith Coste, Ariane Perry, Noël Peretti, Virginie Colomb, Alain Lachaux

المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA)

المصدر: Archives of Disease in Childhood
Archives of Disease in Childhood, BMJ Publishing Group, 2014, 99 (1), pp.35-8. ⟨10.1136/archdischild-2013-304016⟩
Europe PubMed Central

مصطلحات موضوعية: Male, Diarrhea, Pediatrics, medicine.medical_specialty, Parenteral Nutrition, Liver/abnormalities, [SDV]Life Sciences [q-bio], Intrauterine growth restriction, Carrier Proteins/*genetics, Kaplan-Meier Estimate, Short stature, France/epidemiology, Cohort Studies, Age Distribution, medicine, Hair Diseases/*epidemiology/genetics/immunology, Weaning, Humans, Infantile/*epidemiology/genetics/immunology, Fetal Growth Retardation, business.industry, DNA Helicases/*genetics, DNA Helicases, Infant, Facies, Syndrome, medicine.disease, Tricho-hepato-enteric syndrome, 3. Good health, Parenteral nutrition, Liver, Fetal Growth Retardation/*epidemiology/genetics/immunology, Pediatrics, Perinatology and Child Health, Cohort, Diarrhea, Infantile, Small for gestational age, Female, France, Diarrhea/*genetics, medicine.symptom, business, Carrier Proteins, Hair Diseases, Rare disease, Parenteral Nutrition/*statistics & numerical data

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47fc1de415db27fc657b0aaa1986214a
https://hal.archives-ouvertes.fr/hal-01859445