عنوان ترانسليتريتد: Hipobetalipoproteinemia familiar ApoB específica en una paciente con hiperplasia suprarrenal congénita no clásica.

المؤلفون: Ramos Bachiller B; Servicio de Endocrinología y Nutrición, Complejo Asistencial Universitario de León, Castilla-León, España. Electronic address: beatriz.ramos.bachiller@gmail.com., Luque-Ramírez M; Servicio de Endocrinología y Nutrición, Hospital Universitario Ramón y Cajal, Madrid, España; Grupo de Investigación en Diabetes, Obesidad y Reproducción Humana, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), CIBER de Diabetes y Enfermedades Metabólicas asociadas, y Universidad de Alcalá, Madrid, España., Rodríguez-Jiménez C; Department of Genetics of Metabolic Diseases, Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, España., Arrieta Blanco FJ; Servicio de Endocrinología y Nutrición, Hospital Universitario Ramón y Cajal, Madrid, España; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) para Enfermedades Metabólicas Hereditarias, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, España.

المصدر: Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis [Clin Investig Arterioscler] 2024 May-Jun; Vol. 36 (3), pp. 128-132. Date of Electronic Publication: 2024 Jan 08.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Ediciones Doyma S.A Country of Publication: Spain NLM ID: 9208512 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1578-1879 (Electronic) Linking ISSN: 02149168 NLM ISO Abbreviation: Clin Investig Arterioscler Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/genetics , Adrenal Hyperplasia, Congenital*/complications , Hypobetalipoproteinemia, Familial, Apolipoprotein B*/genetics , Mutation* , Apolipoproteins B*/genetics , Cholesterol, LDL*/blood, Humans ; Female ; Adult ; Cholesterol/blood ; Triglycerides/blood ; Steroid 21-Hydroxylase/genetics ; Heterozygote ; Fatty Liver/genetics

المؤلفون: Wakabayashi T; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University., Takahashi M; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University., Okazaki H; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University., Okazaki S; Division for Health Service Promotion, The University of Tokyo., Yokote K; Chiba University., Tada H; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences., Ogura M; Department of Clinical Laboratory Technology, Faculty of Medical Science, Juntendo University., Ishigaki Y; Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University., Yamashita S; Department of Cardiology, Rinku General Medical Center., Harada-Shiba M; Cardiovascular Center, Osaka Medical and Pharmaceutical University.

مؤلفون مشاركون: Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan

المصدر: Journal of atherosclerosis and thrombosis [J Atheroscler Thromb] 2024 Jul 01; Vol. 31 (7), pp. 1005-1023. Date of Electronic Publication: 2024 May 03.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Japan Atherosclerosis Society Country of Publication: Japan NLM ID: 9506298 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1880-3873 (Electronic) Linking ISSN: 13403478 NLM ISO Abbreviation: J Atheroscler Thromb Subsets: MEDLINE

مواضيع طبية MeSH: Hypobetalipoproteinemias*/diagnosis , Hypobetalipoproteinemias*/genetics , Hypobetalipoproteinemias*/therapy, Humans ; Disease Management ; Hypobetalipoproteinemia, Familial, Apolipoprotein B

SCR Disease Name: Hypobetalipoproteinemia, Familial, 1

المؤلفون: Rodríguez de Vera-Gómez P; Endocrinology and Nutrition Department, University Hospital Virgen Macarena, Seville, Spain (Drs de Vera-Gómez, García-González, Oliva-Rodríguez, and Martínez-Brocca). Electronic address: pablo.rodriguezvera.sspa@juntadeandalucia.es., Del Pino-Bellido P; Gastroenterology Department, University Hospital Virgen Macarena, Seville, Spain (Dr Pino-Bellido)., García-González JJ; Endocrinology and Nutrition Department, University Hospital Virgen Macarena, Seville, Spain (Drs de Vera-Gómez, García-González, Oliva-Rodríguez, and Martínez-Brocca)., Sánchez-Jiménez F; Clinical Biochemistry Department, University Hospital Virgen Macarena, Seville, Spain (Drs Sánchez-Jiménez and Arrobas-Velilla)., Oliva-Rodríguez R; Endocrinology and Nutrition Department, University Hospital Virgen Macarena, Seville, Spain (Drs de Vera-Gómez, García-González, Oliva-Rodríguez, and Martínez-Brocca)., Arrobas-Velilla T; Clinical Biochemistry Department, University Hospital Virgen Macarena, Seville, Spain (Drs Sánchez-Jiménez and Arrobas-Velilla)., Martínez-Brocca MA; Endocrinology and Nutrition Department, University Hospital Virgen Macarena, Seville, Spain (Drs de Vera-Gómez, García-González, Oliva-Rodríguez, and Martínez-Brocca).

المصدر: Journal of clinical lipidology [J Clin Lipidol] 2022 Sep-Oct; Vol. 16 (5), pp. 601-607. Date of Electronic Publication: 2022 Jul 21.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-2874 (Print) Linking ISSN: 18764789 NLM ISO Abbreviation: J Clin Lipidol Subsets: MEDLINE

مواضيع طبية MeSH: Hypobetalipoproteinemia, Familial, Apolipoprotein B*/genetics , Hypobetalipoproteinemias*/genetics, Middle Aged ; Female ; Humans ; Apolipoproteins B ; Cholesterol

SCR Disease Name: Hypobetalipoproteinemia, Familial, 1

المؤلفون: Vanhoye X; Service de Biochimie et de Biologie Moléculaire, Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon, F-69677 Bron, France., Janin A; Service de Biochimie et de Biologie Moléculaire, Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon, F-69677 Bron, France.; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Université de Lyon, F-69008 Lyon, France., Caillaud A; Institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, F-44000 Nantes, France., Rimbert A; Institut du Thorax, Nantes Université, CNRS, INSERM, F-44000 Nantes, France., Venet F; Laboratoire d'Immunologie, Edouard Herriot Hospital, Hospices Civils de Lyon, F-69437 Lyon, France.; Centre International de Recherche en Infectiologie (CIRI), INSERM U1111, CNRS, UMR5308, Ecole Normale Supérieure de Lyon, Université Claude Bernard-Lyon 1, F-69364 Lyon, France., Gossez M; Laboratoire d'Immunologie, Edouard Herriot Hospital, Hospices Civils de Lyon, F-69437 Lyon, France.; Centre International de Recherche en Infectiologie (CIRI), INSERM U1111, CNRS, UMR5308, Ecole Normale Supérieure de Lyon, Université Claude Bernard-Lyon 1, F-69364 Lyon, France., Dijk W; Institut du Thorax, Nantes Université, CNRS, INSERM, F-44000 Nantes, France., Marmontel O; Service de Biochimie et de Biologie Moléculaire, Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon, F-69677 Bron, France.; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, F-69364 Lyon, France., Nony S; Service de Biochimie et de Biologie Moléculaire, Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon, F-69677 Bron, France., Chatelain C; Service de Biochimie et de Biologie Moléculaire, Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon, F-69677 Bron, France., Durand C; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, F-69364 Lyon, France., Lindenbaum P; Institut du Thorax, Nantes Université, CNRS, INSERM, F-44000 Nantes, France., Rieusset J; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, F-69364 Lyon, France., Cariou B; Institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, F-44000 Nantes, France., Moulin P; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, F-69364 Lyon, France.; Fédération d'Endocrinologie, Maladies Métaboliques, Diabète et Nutrition, Hôpital Louis Pradel, Hospices Civils de Lyon, F-69677 Bron, France., Di Filippo M; Service de Biochimie et de Biologie Moléculaire, Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon, F-69677 Bron, France.; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, F-69364 Lyon, France.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2022 Apr 13; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Fatty Liver*/genetics , Hypobetalipoproteinemia, Familial, Apolipoprotein B*/genetics , Hypobetalipoproteinemias*/diagnosis , Hypobetalipoproteinemias*/genetics , Hypobetalipoproteinemias*/metabolism, Apolipoproteins B/metabolism ; CRISPR-Cas Systems ; Humans

SCR Disease Name: Hypobetalipoproteinemia, Familial, 1

المؤلفون: Domenech M; Lipid and Vascular Risk Unit, Endocrinology and Nutrition Department, Hospital Clinic of Barcelona, Spain; Faculty of Medicine and Health Sciences. University of Barcelona. Spain; Biomedical Research Networking Center for Physiopathology of Obesity and Nutrition (CIBEROBN). Institute of Health Carlos III, ISCIII. Spain., Llano-Rivas I; Clinical Genetics, Genetic Service. Hospital Universitario Cruces, Basque Country, Spain., Arroyo V; EF Clif, EASL-CLIF Consortium and Grifols Chair, Barcelona, Spain., Ortega E; Lipid and Vascular Risk Unit, Endocrinology and Nutrition Department, Hospital Clinic of Barcelona, Spain; Faculty of Medicine and Health Sciences. University of Barcelona. Spain; Biomedical Research Networking Center for Physiopathology of Obesity and Nutrition (CIBEROBN). Institute of Health Carlos III, ISCIII. Spain. Electronic address: eortega1@clinic.cat.

المصدر: Journal of clinical lipidology [J Clin Lipidol] 2022 Jan-Feb; Vol. 16 (1), pp. 28-32. Date of Electronic Publication: 2021 Nov 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-2874 (Print) Linking ISSN: 18764789 NLM ISO Abbreviation: J Clin Lipidol Subsets: MEDLINE

مواضيع طبية MeSH: Hypobetalipoproteinemia, Familial, Apolipoprotein B*/genetics , Hypobetalipoproteinemias*/genetics, Apolipoprotein B-100/*genetics, Apolipoproteins B/genetics ; Humans ; Mutation

SCR Disease Name: Hypobetalipoproteinemia, Familial, 1

المؤلفون: Musialik J; Department of Nephrology, Transplantation and Internal Medicine, Medical University of Silesia in Katowice, 40-055 Katowice, Poland., Boguszewska-Chachulska A; Genomed SA, 02-971 Warsaw, Poland., Pojda-Wilczek D; Department of Ophthalmology, Medical University of Silesia in Katowice, 40-055 Katowice, Poland., Gorzkowska A; Department of Neurology, Department of Neurorehabilitation, Medical University of Silesia in Katowice, 40-055 Katowice, Poland., Szymańczak R; Genomed SA, 02-971 Warsaw, Poland., Kania M; Genomed SA, 02-971 Warsaw, Poland., Kujawa-Szewieczek A; Department of Nephrology, Transplantation and Internal Medicine, Medical University of Silesia in Katowice, 40-055 Katowice, Poland., Wojcieszyn M; Department of Gastroenterology, II John Paul Pediatric Center, 41-200 Sosnowiec, Poland., Hartleb M; Department of Gastroenterology and Hepatology, Medical University of Silesia in Katowice, 40-055 Katowice, Poland., Więcek A; Department of Nephrology, Transplantation and Internal Medicine, Medical University of Silesia in Katowice, 40-055 Katowice, Poland.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2020 Feb 20; Vol. 21 (4). Date of Electronic Publication: 2020 Feb 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Apolipoprotein B-100*/genetics , Apolipoprotein B-100*/metabolism , Hypobetalipoproteinemia, Familial, Apolipoprotein B*/diagnostic imaging , Hypobetalipoproteinemia, Familial, Apolipoprotein B*/genetics , Hypobetalipoproteinemia, Familial, Apolipoprotein B*/metabolism , Mutation, Missense* , Nervous System Diseases*/diagnostic imaging , Nervous System Diseases*/genetics , Nervous System Diseases*/metabolism , RNA Splicing*, Adult ; Aged ; Amino Acid Substitution ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male

المؤلفون: Blanco-Vaca F; Hospital de la Santa Creu i Sant Pau, Servei de Bioquímica - IIB Sant Pau, Barcelona, Spain; CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain; Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Spain. Electronic address: fblancova@santpau.cat., Martin-Campos JM; CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain; Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau- IIB Sant Pau, Barcelona, Spain., Beteta-Vicente Á; Hospital de la Santa Creu i Sant Pau, Servei de Bioquímica - IIB Sant Pau, Barcelona, Spain., Canyelles M; Hospital de la Santa Creu i Sant Pau, Servei de Bioquímica - IIB Sant Pau, Barcelona, Spain; Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Spain., Martínez S; Hospital de la Santa Creu i Sant Pau, Servei de Bioquímica - IIB Sant Pau, Barcelona, Spain., Roig R; Hospital de la Santa Creu i Sant Pau, Servei de Bioquímica - IIB Sant Pau, Barcelona, Spain., Farré N; Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau- IIB Sant Pau, Barcelona, Spain., Julve J; CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain; Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau- IIB Sant Pau, Barcelona, Spain., Tondo M; Hospital de la Santa Creu i Sant Pau, Servei de Bioquímica - IIB Sant Pau, Barcelona, Spain. Electronic address: mtondo@santpau.cat.

المصدر: Atherosclerosis [Atherosclerosis] 2019 Apr; Vol. 283, pp. 52-60. Date of Electronic Publication: 2019 Feb 11.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: Ireland NLM ID: 0242543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1484 (Electronic) Linking ISSN: 00219150 NLM ISO Abbreviation: Atherosclerosis Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Angiopoietin-like Proteins/*genetics , Apolipoproteins B/*genetics , Carrier Proteins/*genetics , DNA/*genetics , Hypobetalipoproteinemia, Familial, Apolipoprotein B/*genetics , Monomeric GTP-Binding Proteins/*genetics, Adolescent ; Adult ; Aged ; Angiopoietin-Like Protein 3 ; Angiopoietin-like Proteins/metabolism ; Apolipoproteins B/metabolism ; Carrier Proteins/metabolism ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genetic Markers ; Heterozygote ; Homozygote ; Humans ; Hypobetalipoproteinemia, Familial, Apolipoprotein B/diagnosis ; Hypobetalipoproteinemia, Familial, Apolipoprotein B/metabolism ; Infant ; Male ; Microsomes ; Middle Aged ; Monomeric GTP-Binding Proteins/metabolism ; Phenotype ; Young Adult

SCR Disease Name: Hypobetalipoproteinemia, Familial, 1

المؤلفون: Hartz J; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA., Hegele RA; Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada., Wilson DP; Department of Pediatric Endocrinology, Cook Children's Medical Center, Ft Worth, TX, USA. Electronic address: don.wilson@cookchildrens.org.

المصدر: Journal of clinical lipidology [J Clin Lipidol] 2019 May - Jun; Vol. 13 (3), pp. 367-373. Date of Electronic Publication: 2019 May 16.

نوع المنشور: Editorial; Comment

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-2874 (Print) Linking ISSN: 18764789 NLM ISO Abbreviation: J Clin Lipidol Subsets: MEDLINE

مواضيع طبية MeSH: Hypobetalipoproteinemia, Familial, Apolipoprotein B* , Hypobetalipoproteinemias* , Non-alcoholic Fatty Liver Disease*, Cholesterol, LDL ; Humans ; Phenotype

المؤلفون: Dinpanah, Kayhan, Kazemi, Toba, Shetty, Sameep, Bizhaem, Saeede Khosravi, Fanoodi, Ali, Riahi, Seyed Mohammad^{Aff5, IDs4020002301235z_cor6}

المصدر: Journal of Diabetes & Metabolic Disorders. 23(1):1-10

المؤلفون: Kim, Hong-Gi, Park, Jin-Ho, Shin, Ha-Hyun, Kim, So-Hee, Jeon, Ha-Eun, Shin, Ji-Hwa, Won, Young-Suk, Kwon, Hyo-Jung, Jeon, Eun-Seok, Lim, Byung-Kwan

المصدر: Scientific Reports; 9/16/2024, Vol. 14 Issue 1, p1-12, 12p

مصطلحات موضوعية: FATTY liver, APOLIPOPROTEIN B, LIPOPROTEIN receptors, RNA editing, NON-alcoholic fatty liver disease