Zobrazeno 1 - 10
of 774
pro vyhledávání: '"xanthomatosis, cerebrotendinous"'
Autor:
Barbosa LRS; Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil., Camelo-Filho AE; Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil., Lima PLGSB; Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil., Moura AEF; Deparment of Neurology, General Hospital of Ceara, Fortaleza, Ceara, Brazil. Avila Goularte St., 900, Papicu, Fortaleza, Ceara, 60150-160, Brazil., Pessoa ALS; Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil., Braga-Neto P; Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil; Center of Health Sciences, State University of Ceara, Fortaleza, Ceara, Brazil. Dr. Silas Munguba Av., 1700, Itaperi, Fortaleza, Ceara, 60714-903, Brazil., Sobreira-Neto MA; Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil. Electronic address: manoelsobreira@ufc.br., Nóbrega PR; Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil; Centro Universitário Christus, Fortaleza, Ceara, Brazil. Dom Luís Ave., 911, Fortaleza, Ceara, 60160-230, Brazil.
Publikováno v:
Sleep medicine [Sleep Med] 2024 Dec; Vol. 124, pp. 613-617. Date of Electronic Publication: 2024 Oct 29.
Autor:
Fussiger H; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Lima PLGSB; Faculty of Medicine, Federal University of Ceara, Fortaleza, Brazil., Souza PVS; Neurometabolic Unit, Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Freua F; Clinics Hospital, Faculty of Medicine, University of Sao Paulo, São Paulo, Brazil.; Neurology Department, Beneficência Portuguesa Hospital, São Paulo, Brazil., Husny ASE; Hospital Universitário Bettina Ferro de Souza, Universidade Federal do Pará, Belém, Brazil., Leão EKEA; University Hospital Complex Prof. Edgard Santos, Universidade Federal da Bahia, Salvador, Brazil., Braga-Neto P; Division of Neurology, Federal University of Ceara, Fortaleza, Brazil.; Center of Health Sciences, State University of Ceara, Fortaleza, Brazil., Kok F; Neurogenetics Unit, Department of Neurology, School of Medicine of Universidade de São Paulo, São Paulo, Brazil., Lynch DS; Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK.; The Leonard Wolfson Experimental Neurology Centre, National Hospital for Neurology & Neurosurgery, London, UK., Saute JAM; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Nóbrega PR; Division of Neurology, Federal University of Ceara, Fortaleza, Brazil.; Campus Parque Ecológico, Centro Universitário Christus, Fortaleza, Brazil.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 721-732. Date of Electronic Publication: 2024 Aug 05.
Autor:
Salardaine Q; Neurology Department, AP-HP Sorbonne University, Pitié-Salpêtrière University Hospital, Paris, France., Shor N; Neuroradiology Department, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, Paris, France., Villain N; Neurology Department, AP-HP Sorbonne University, Pitié-Salpêtrière University Hospital, Paris, France.; Institut du Cerveau - ICM, Sorbonne Université, INSERM U1127, CNRS 7225, Paris, France., Bozon F; Neurology Department, AP-HP Sorbonne University, Pitié-Salpêtrière University Hospital, Paris, France., Amador MDM; Neurology Department, National Reference center ALS, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, Paris, France., Duchon C; Inherited Metabolic Disease Department and National Reference Centre for Inherited Metabolic diseases, Necker Hospital, AP-HP Centre-Paris University, Paris, France., Mélé N; Neurology Department, GHU Paris Psychiatrie et Neurosciences, Université Paris Cité, Sainte-Anne Hospital, Paris, France., Schiff M; Paediatrics Department, Reference Center for Inborn Error of Metabolism, Necker and Robert-Debré Hospital, AP-HP, Université Paris Cité, Paris, France., Brassier A; Inherited Metabolic Disease Department and National Reference Centre for Inherited Metabolic diseases, Necker Hospital, AP-HP Centre-Paris University, Paris, France., Nadjar Y; Neurology Department, Reference Center for Neurological Metabolic and Lysosomal Diseases, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, Paris, France.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Sep; Vol. 47 (5), pp. 1069-1079. Date of Electronic Publication: 2024 Jun 19.
Autor:
Jadala R; Resident, Department of Neurology, Madras Medical College, Chennai, Tamil Nadu, India., Elumalai U; Assistant Professor, Department of Neurology, Madras Medical College, Chennai, Tamil Nadu, India, Corresponding Author., Natesan AK; Assistant Professor, Department of Neurology, Madras Medical College, Chennai, Tamil Nadu, India., Samivel B; Director and Professor, Department of Neurology, Madras Medical College, Chennai, Tamil Nadu, India.
Publikováno v:
The Journal of the Association of Physicians of India [J Assoc Physicians India] 2024 Aug; Vol. 72 (8), pp. 90-92.
Autor:
Min JH; Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, 164, World Cup-Ro, Yeongtong-Gu, Suwon, Republic of Korea., Kim YS; Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, 164, World Cup-Ro, Yeongtong-Gu, Suwon, Republic of Korea., Son MJ; Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, 164, World Cup-Ro, Yeongtong-Gu, Suwon, Republic of Korea., Joo IS; Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, 164, World Cup-Ro, Yeongtong-Gu, Suwon, Republic of Korea. isjoo@ajou.ac.kr.
Publikováno v:
Journal of medical case reports [J Med Case Rep] 2024 Jul 11; Vol. 18 (1), pp. 334. Date of Electronic Publication: 2024 Jul 11.
Autor:
Alves RJ; Cardiology Division, Faculty of Medical Science of the Santa Casa of Sao Paulo, Santa Casa Hospital. Dr Cesário Motta Junior street, 112, São Paulo, Brazil (Dr Alves and Junior)., Nunes VS; Laboratorio de Lipides (LIM10), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR., Av. Dr. Arnaldo 455, room 3305, 01246-000, São Paulo, Brazil (Dr Nunes, Nakandakare and Quintão)., Junior NCDCB; Cardiology Division, Faculty of Medical Science of the Santa Casa of Sao Paulo, Santa Casa Hospital. Dr Cesário Motta Junior street, 112, São Paulo, Brazil (Dr Alves and Junior)., Nakandakare ER; Laboratorio de Lipides (LIM10), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR., Av. Dr. Arnaldo 455, room 3305, 01246-000, São Paulo, Brazil (Dr Nunes, Nakandakare and Quintão)., Quintão ECR; Laboratorio de Lipides (LIM10), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR., Av. Dr. Arnaldo 455, room 3305, 01246-000, São Paulo, Brazil (Dr Nunes, Nakandakare and Quintão). Electronic address: equintao@terra.com.br.
Publikováno v:
Journal of clinical lipidology [J Clin Lipidol] 2024 Jul-Aug; Vol. 18 (4), pp. e631-e635. Date of Electronic Publication: 2024 Apr 23.
Autor:
Zubarioglu T; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey. Electronic address: tanyel.zubarioglu@iuc.edu.tr., Kıykım E; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey., Köse E; Ankara University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey., Eminoğlu FT; Ankara University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey., Teke Kısa P; Dokuz Eylul University Medical Faculty, Division of Pediatric Nutrition and Metabolism, Izmir, Turkey., Balcı MC; Istanbul University, Istanbul Medical Faculty Children's Hospital, Division of Nutrition and Metabolism, Istanbul, Turkey., Özer I; Ondokuz Mayıs University, Faculty of Medicine, Department of Pediatric Metabolism, Samsun, Turkey; Kafkas University, Division of Pediatric Nutrition and Metabolism, Kars, Turkey., İnci A; Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey., Çilesiz K; Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey., Canda E; Ege University Medical Faculty, Division of Pediatric Nutrition and Metabolism, İzmir, Turkey., Yazıcı H; Ege University Medical Faculty, Division of Pediatric Nutrition and Metabolism, İzmir, Turkey., Öztürk-Hişmi B; Marmara University School of Medicine, Division of Pediatric Metabolic Disorders, İstanbul, Turkey., Bulut FD; Cukurova University Medical Faculty, Division of Pediatric Metabolism and Nutrition, Adana, Turkey., Dorum S; Health Sciences University, Bursa Yuksek Ihtisas Training and Research Hospital, Division of Pediatric Nutrition and Metabolism, Bursa, Turkey., Akgun A; Firat University, School of Medicine, Department of Pediatrics, Division of Pediatric Metabolic Diseases, Elazığ, Turkey., Yalçın-Çakmaklı G; Hacettepe University Faculty of Medicine, Department of Neurology, Ankara, Turkey., Kılıç-Yıldırım G; Eskisehir Osmangazi University, Faculty of Medicine, Pediatric Nutrition and Metabolism Unit, Eskişehir, Turkey., Soyuçen E; Akdeniz University Faculty of Medicine, Department of Pediatrics, Division of Inherited Pediatric Metabolic Diseases, Antalya, Turkey., Akçalı A; Gaziantep University Faculty of Medicine, Department of Neurology, Gaziantep, Turkey., Güneş D; Bağcılar Training and Research Hospital, Division of Inborn Metabolic Disease, İstanbul, Turkey., Durmuş A; Kanuni Training and Research Hospital, Division of Pediatric Metabolism, Trabzon, Turkey., Gündüz A; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Neurology, İstanbul, Turkey., Kasapkara ÇS; Ankara Yıldırım Beyazıt University, Ankara Bilkent City Hospital, Department of Pediatric Metabolism, Ankara, Turkey., Göksoy E; Adnan Menderes University Medical Faculty, Division of Pediatric Metabolism, Aydın, Turkey., Akar HT; Ankara Etlik City Hospital, Pediatric Metabolic Diseases Unit, Ankara, Turkey., Ersoy M; Health Sciences University, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Department of Pediatrics, Division of Pediatric Metabolic Diseases, İstanbul, Turkey., Erdöl Ş; Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Division of Metabolism, Bursa, Turkey., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Ankara, Turkey., Hanağası HA; Istanbul Faculty of Medicine, Department of Neurology, İstanbul, Turkey., Arslan N; Dokuz Eylul University Medical Faculty, Division of Pediatric Nutrition and Metabolism, Izmir, Turkey., Aktuğlu-Zeybek Ç; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108493. Date of Electronic Publication: 2024 May 13.
Autor:
Yılmaz BK; Department of Pediatric Metabolism, Konya City Hospital, University of Health Sciences, Konya, Turkey (Dr Yılmaz); Department of Pediatric Nutrition and Metabolism, Faculty of Medicine, Selçuk University, Konya, Turkey (Dr Yılmaz). Electronic address: banukadioglu@yahoo.com.tr., Çelik H; Department of Pediatric Neurology, Konya City Hospital, University of Health Sciences, Konya, Turkey (Dr Çelik).
Publikováno v:
Journal of clinical lipidology [J Clin Lipidol] 2024 May-Jun; Vol. 18 (3), pp. e452-e464. Date of Electronic Publication: 2024 Feb 28.
Autor:
DeBarber AE; University Shared Resources, Oregon Health & Science University (OHSU), Portland, OR, United States of America (Dr DeBarber, Ms Redder and Ms Fowler). Electronic address: debarber@ohsu.edu., Schaefer EJ; Boston Heart Diagnostics/Eurofins Scientific Network, Framingham, MA, United States of America and Department of Medicine, Tufts University School of Medicine, Boston, MA, United States of America (Dr Schaefer)., Do J; Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, United States of America (Ms Do and Dr Ray)., Ray JW; Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, United States of America (Ms Do and Dr Ray)., Larson A; University of Colorado School of Medicine, Aurora, CO, United States of America (Dr Larson)., Redder S; University Shared Resources, Oregon Health & Science University (OHSU), Portland, OR, United States of America (Dr DeBarber, Ms Redder and Ms Fowler)., Fowler M; University Shared Resources, Oregon Health & Science University (OHSU), Portland, OR, United States of America (Dr DeBarber, Ms Redder and Ms Fowler)., Duell PB; Center for Preventive Cardiology, Knight Cardiovascular Institute & Division of Endocrinology, Diabetes & Clinical Nutrition, OHSU, Portland, OR, United States of America (Dr Duell).
Publikováno v:
Journal of clinical lipidology [J Clin Lipidol] 2024 May-Jun; Vol. 18 (3), pp. e465-e476. Date of Electronic Publication: 2024 Mar 15.
Autor:
Zaccai TCF; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel. Electronic address: falikmd.genetics@gmail.com., Hassin-Baer S; Movement Disorders Institute, Department of Neurology, Chaim Sheba Medical Center, Ramat Gan, Israel; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Kfir NC; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel., Duell PB; Knight Cardiovascular Institute and Division of Endocrinology, Diabetes and Clinical Nutrition, Oregon Health & Science University, Portland, OR., Neerhof M; Department of Obstetrics and Gynecology, NorthShore University Health System, Evanston, Illinois., Sloma R; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel., Roitman M; Department of Neurology, Chaim Sheba Medical Center, Ramat Gan, Israel., Kisanuki YY; Neurogenetic Disorders Clinic/Ataxia Clinic, Neurology Department, The Ohio State University Wexner Medical Center, Columbus, Ohio., Verrips A; Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands., DeBarber AE; University Shared Resources, Oregon Health and Science University, Portland, OR.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101086. Date of Electronic Publication: 2024 Jan 27.