المؤلفون: Lausch E; University of Freiburg., Yoshimi A; University of Freiburg.

المصدر: Blood [Blood] 2023 Jun 29; Vol. 141 (26), pp. 3231.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Abetalipoproteinemia*/diagnosis, Humans

المؤلفون: Zhang YQ; Department of Infectious Diseases, Children's Hospital of Fudan University, Shanghai 201102, China., Wang JS; Department of Infectious Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2023 Jan 02; Vol. 61 (1), pp. 70-75.

نوع المنشور: Review; Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Abetalipoproteinemia*/genetics , Abetalipoproteinemia*/diagnosis , Hypobetalipoproteinemias*/genetics , Hypobetalipoproteinemias*/diagnosis , Fatty Liver*/genetics, Child ; Female ; Humans ; Male ; Child, Preschool ; Infant ; Retrospective Studies ; Apolipoproteins B/genetics ; Lipids

المؤلفون: Bredefeld C; Department of Medicine, New York University Long Island School of Medicine, NYU Langone Hospital-Long Island, Mineola, New York 11501, USA (Dr Bredefeld)., Hussain MM; Department of Foundations of Medicine, New York University Long Island School of Medicine, NYU Langone Hospital-Long Island, Mineola, New York 11501, USA (Dr Hussain). Electronic address: mahmood.hussain@nyulangone.org., Averna M; Department. of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo-School of Medicine, Via del Vespro, 129-90127 Palermo, Italy (Dr Averna)., Black DD; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee 38103, USA (Dr Black)., Brin MF; Department of Neurology, University of California, and Allergan, Inc., an AbbVie Company, Irvine, California, USA (Dr Brin)., Burnett JR; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, and School of Medicine, University of Western Australia, Perth, Australia (Dr Burnett)., Charrière S; Department of Endocrinology, Metabolic Disease, Diabetes and Nutrition, Hospices Civils de Lyon, Lyon, France (Drs Charrière and Moulin); CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, F-69310 Pierre-Bénite; F-69500 Bron, France (Drs Charrière, Cuerq, Moulin, and Peretti)., Cuerq C; CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, F-69310 Pierre-Bénite; F-69500 Bron, France (Drs Charrière, Cuerq, Moulin, and Peretti); Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Lyon, France (Drs Cuerq, and Di Filippo)., Davidson NO; Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA (Dr Davidson)., Deckelbaum RJ; Departments of Pediatrics and Epidemiology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York 10032, USA (Dr Deckelbaum)., Goldberg IJ; Division of Endocrinology, Department of Medicine, New York University Grossman School of Medicine, New York, New York, USA (Dr Goldberg)., Granot E; Department of Pediatrics, Pediatric Hepatology Service, Kaplan Medical Center, Rehovot, and Hebrew University-Hadassah Medical School, Jerusalem, Israel (Dr Granot)., Hegele RA; Robarts Research Institute, University of Western Ontario, London, Ontario, Canada (Dr Hegele)., Ishibashi S; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan (Drs Ishibashi, Okazaki, and Takahashi)., Karmally W; Columbia University Irving Medical Center, New York, New York 10032, USA (Dr Karmally)., Levy E; Research Centre, CHU-Sainte-Justine, and Université de Montréal, Montreal, Québec, Canada (Dr Levy)., Moulin P; Department of Endocrinology, Metabolic Disease, Diabetes and Nutrition, Hospices Civils de Lyon, Lyon, France (Drs Charrière and Moulin); CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, F-69310 Pierre-Bénite; F-69500 Bron, France (Drs Charrière, Cuerq, Moulin, and Peretti)., Okazaki H; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan (Drs Ishibashi, Okazaki, and Takahashi); Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan (Dr Okazaki)., Poinsot P; Department of Pediatric Gastroenterology-Hepatology and Nutrition, Hospices Civil de Lyon, Hôpital Femme Mere Enfant, F-69500 Bron, France (Drs Poinsot and Peretti)., Rader DJ; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA (Dr Rader)., Takahashi M; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan (Drs Ishibashi, Okazaki, and Takahashi)., Tarugi P; Department of Life Sciences, University of Modena and Reggio Emilia, Italy (Dr Tarugi)., Traber MG; Linus Pauling Institute, Oregon State University, Corvallis, Oregon, USA (Dr Traber)., Di Filippo M; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Lyon, France (Drs Cuerq, and Di Filippo)., Peretti N; CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, F-69310 Pierre-Bénite; F-69500 Bron, France (Drs Charrière, Cuerq, Moulin, and Peretti); Department of Pediatric Gastroenterology-Hepatology and Nutrition, Hospices Civil de Lyon, Hôpital Femme Mere Enfant, F-69500 Bron, France (Drs Poinsot and Peretti).

المصدر: Journal of clinical lipidology [J Clin Lipidol] 2022 Nov-Dec; Vol. 16 (6), pp. 797-812. Date of Electronic Publication: 2022 Sep 29.

نوع المنشور: Journal Article; Review

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: Abetalipoproteinemia*/diagnosis , Abetalipoproteinemia*/genetics , Abetalipoproteinemia*/therapy , Hypobetalipoproteinemias*/diagnosis , Hypobetalipoproteinemias*/genetics , Hypobetalipoproteinemias*/therapy , Lipid Metabolism Disorders*, Humans ; Homozygote ; Vitamins

المؤلفون: Ali SM; Liaquat National Hospital, Karachi., Raza N; Liaquat National Hospital, Karachi., Aftab E; Liaquat National Hospital, Karachi., Mohammad MF; Liaquat National Medical College, Karachi-Pakistan.

المصدر: Journal of Ayub Medical College, Abbottabad : JAMC [J Ayub Med Coll Abbottabad] 2023 Feb-Mar; Vol. 35 (1), pp. 182-185.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Ayub Medical College Country of Publication: Pakistan NLM ID: 8910750 Publication Model: Print Cited Medium: Internet ISSN: 1819-2718 (Electronic) Linking ISSN: 10259589 NLM ISO Abbreviation: J Ayub Med Coll Abbottabad Subsets: MEDLINE

مواضيع طبية MeSH: Abetalipoproteinemia*, Humans ; Erythrocytes

المؤلفون: Wei Q; Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China., Fang Y; Department of Pediatrics, the People's Hospital of Wuxuan, Laibin 545900, China., He SZ; Department of Pediatrics, the People's Hospital of Wuxuan, Laibin 545900, China., Qin KG; Department of Pediatrics, the People's Hospital of Wuxuan, Laibin 545900, China., Zhang YY; Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China., Nong GM; Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2022 Oct 02; Vol. 60 (10), pp. 1083-1084.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Abetalipoproteinemia* , Kartagener Syndrome*, Cilia ; Humans

المؤلفون: Takahashi M; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University., Okazaki H; Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo., Ohashi K; Department of General Internal Medicine, National Cancer Center Hospital., Ogura M; Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute., Ishibashi S; Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, Jichi Medical University., Okazaki S; Division for Health Service Promotion, The University of Tokyo., Hirayama S; Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine., Hori M; Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University., Matsuki K; Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine., Yokoyama S; Institute for Biological Functions, Chubu University., Harada-Shiba M; Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

المصدر: Journal of atherosclerosis and thrombosis [J Atheroscler Thromb] 2021 Oct 01; Vol. 28 (10), pp. 1009-1019. Date of Electronic Publication: 2021 May 16.

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: Abetalipoproteinemia/*diagnosis , Abetalipoproteinemia/*therapy, Abetalipoproteinemia/blood ; Abetalipoproteinemia/pathology ; Apolipoproteins B/blood ; Cholesterol, LDL/blood ; Cost of Illness ; Disease Management ; Humans ; Prognosis

المؤلفون: Legland Ép Dejean AM; Laboratoire de biologie, HIA Sainte Anne, Toulon, France., Plantamura J; Laboratoire de biologie, HIA Sainte Anne, Toulon, France., Arnoux I; Laboratoire d'Hématologie, Hopital de la Timone, Marseille, France., Paleiron N; Service de pneumologie, HIA Sainte Anne, Toulon, France., Loosveld M; Laboratoire d'Hématologie, Hopital de la Timone, Marseille, France., Buono Ép Foucher B; Laboratoire de biologie, HIA Sainte Anne, Toulon, France.

المصدر: British journal of haematology [Br J Haematol] 2022 Apr; Vol. 197 (2), pp. 131. Date of Electronic Publication: 2022 Feb 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Abetalipoproteinemia* , Lung Neoplasms*, Carbazoles/adverse effects ; Humans ; Piperidines/adverse effects ; Protein Kinase Inhibitors/adverse effects

المؤلفون: Le R; Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Zhao L; Department of Pathology and Laboratory Medicine; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Hegele RA; Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Biochemistry and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address: hegele@robarts.ca.

المصدر: Journal of clinical lipidology [J Clin Lipidol] 2022 Mar-Apr; Vol. 16 (2), pp. 155-159. Date of Electronic Publication: 2022 Feb 12.

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

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: Abetalipoproteinemia*/genetics , Hypobetalipoproteinemias*/genetics, Apolipoprotein B-100 ; Apolipoproteins B ; Follow-Up Studies ; Humans ; Lipoproteins ; Lipoproteins, LDL

المؤلفون: Takahashi M; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan. Electronic address: m-taka@jichi.ac.jp., Ozaki N; Division of Endocrinology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya 453-8511, Japan., Nagashima S; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan., Wakabayashi T; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan., Iwamoto S; Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan., Ishibashi S; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan. Electronic address: ishibash@jichi.ac.jp.

المصدر: Journal of clinical lipidology [J Clin Lipidol] 2021 Jul-Aug; Vol. 15 (4), pp. 569-573. Date of Electronic Publication: 2021 May 08.

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: Heterozygote*, Abetalipoproteinemia/*genetics , Apolipoprotein B-100/*genetics , Apolipoprotein B-48/*genetics , Carrier Proteins/*genetics , Mutation/*genetics, Abetalipoproteinemia/blood ; Abetalipoproteinemia/diagnosis ; Adult ; Aged ; Apolipoprotein B-100/blood ; Apolipoprotein B-48/blood ; Biomarkers/blood ; Carrier Proteins/blood ; Female ; Humans ; Male

المؤلفون: Sissaoui S; Pediatric Hepatology Unit.; Department of Pediatric Gastroenterology-Hepatology-Nutrition, Reference Center for Biliary Atresia and Genetic Cholestasis, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris., Cochet M; Pediatric Hepatology Unit.; Department of Pediatric Gastroenterology-Hepatology-Nutrition, Reference Center for Biliary Atresia and Genetic Cholestasis, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris., Poinsot P; Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite., Bordat C; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite., Collardeau-Frachon S; Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite.; Univ. Lyon, Hospices Civil de Lyon, Institut de pathologie, Groupement Hospitalier Est, Bron, France., Lachaux A; Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite., Lacaille F; Department of Pediatric Gastroenterology-Hepatology-Nutrition, Reference Center for Biliary Atresia and Genetic Cholestasis, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris., Peretti N; Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite.

المصدر: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2021 Jul 01; Vol. 73 (1), pp. 4-8.

نوع المنشور: Journal Article

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: Abetalipoproteinemia*/diagnosis , Abetalipoproteinemia*/genetics , Hypobetalipoproteinemias*/diagnosis , Hypobetalipoproteinemias*/genetics, Adult ; Apolipoproteins B ; Child ; Humans ; Lipids ; Vitamin E