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Guidance for the diagnosis and treatment of hypolipidemia disorders.

Autor: 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).

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

Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.

Autor: Mohamad J; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Samuelov L; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Assaf S; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Malki L; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Malovitski K; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Meijers O; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel., Adir N; Schulich Faculty of Chemistry, Technion, Haifa, Israel., Granot E; Shoham Medical Center, Pardes Hana, Israel., Pavlovsky M; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Sarig O; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel., Sprecher E; Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2879-2887. Date of Electronic Publication: 2022 Aug 03.