المؤلفون: Wu H; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Ying H; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Zhao W; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Sun Y; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China., Wang Y; Department of Pediatric Orthopedics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China., Chen X; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Li G; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China., Yao Y; Department of Pediatric Orthopedics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China., Xu S; Department of Medical Imaging, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China., Li T; Department of Pediatric Orthopedics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China., Fang L; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Sun X; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Wang N; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Xu J; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Guan Q; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Xia W; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China., Wang L; Independent Researcher, Tucson, AZ 85705, USA., Gao L; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Zhao J; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China., Xu C; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China.; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan 250021, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan 250021, Shandong, China.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Aug 13; Vol. 109 (9), pp. 2242-2255.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/genetics , PHEX Phosphate Regulating Neutral Endopeptidase*/genetics, Humans ; Animals ; Mice ; Male ; Female ; Genetic Association Studies ; Child ; Genetic Diseases, X-Linked/genetics ; Genotype ; Child, Preschool ; Mutation, Missense ; Phenotype ; Infant ; Mutation ; Adolescent

المؤلفون: Kamenický P; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France; Centre de Référence des Maladies du Métabolisme du Calcium et du Phosphate, Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France. Electronic address: peter.kamenicky@universite-paris-saclay.fr., Briot K; Centre de Référence des Maladies du Métabolisme du Calcium et du Phosphate, Service de Rhumatologie, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France., Munns CF; Department of Endocrinology and Diabetes, Queensland Children's Hospital and Child Health Research Centre and Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia., Linglart A; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France; Service d'Endocrinologie et du Diabète de l'Enfant, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.

المصدر: Lancet (London, England) [Lancet] 2024 Aug 31; Vol. 404 (10455), pp. 887-901. Date of Electronic Publication: 2024 Aug 21.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-547X (Electronic) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

مواضيع طبية MeSH: Fibroblast Growth Factor-23* , Fibroblast Growth Factors*/metabolism , PHEX Phosphate Regulating Neutral Endopeptidase*/genetics , Familial Hypophosphatemic Rickets*/therapy , Familial Hypophosphatemic Rickets*/genetics, Humans ; Genetic Diseases, X-Linked/therapy ; Genetic Diseases, X-Linked/genetics ; Adult ; Child

المؤلفون: Fraga G; Pediatric Nephrology Department, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), RICORS-SAMID, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Herreros MA; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Pybus M; Molecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain., Aza-Carmona M; Molecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain., Pilco-Teran M; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Furlano M; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., García-Borau MJ; Neonatology Unit, Pediatrics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Torra R; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Ars E; Molecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain.

المصدر: Genes [Genes (Basel)] 2024 May 24; Vol. 15 (6). Date of Electronic Publication: 2024 May 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: PHEX Phosphate Regulating Neutral Endopeptidase*/genetics , Familial Hypophosphatemic Rickets*/genetics , Pedigree* , RNA Splice Sites*/genetics, Humans ; Adult ; Female ; Male ; RNA Splicing/genetics ; Phenotype ; Genetic Diseases, X-Linked/genetics ; Mutation

المؤلفون: Sawatsubashi S; Department of Molecular Endocrinology, Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima, Japan; Research and Innovation Liaison Office, Institute for Advanced Medical Sciences, Tokushima University, Tokushima, Japan., Takashi Y; Department of Molecular Endocrinology, Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima, Japan; Department of Endocrinology and Diabetes Mellitus, Fukuoka University School of Medicine, Fukuoka, Japan., Endo I; Department of Endocrinology, Metabolism and Hematology, Tokushima University Graduate School of Medical Sciences, Tokushima, Japan., Kondo T; Department of Endocrinology, Metabolism and Hematology, Tokushima University Graduate School of Medical Sciences, Tokushima, Japan., Abe M; Department of Endocrinology, Metabolism and Hematology, Tokushima University Graduate School of Medical Sciences, Tokushima, Japan., Matsumoto T; Department of Molecular Endocrinology, Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima, Japan., Fukumoto S; Department of Molecular Endocrinology, Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima, Japan; Department of Diabetes and Endocrinology, Tamaki-Aozora Hospital, Tokushima, Japan. Electronic address: fukumoto-tky@umin.ac.jp.

المصدر: Bone [Bone] 2024 May; Vol. 182, pp. 117057. Date of Electronic Publication: 2024 Feb 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Diseases, X-Linked*/genetics , Osteomalacia*/genetics , PHEX Phosphate Regulating Neutral Endopeptidase*/genetics, Adult ; Humans ; Male ; DNA Mutational Analysis ; Familial Hypophosphatemic Rickets/genetics ; Fibroblast Growth Factors/metabolism ; Hypophosphatemia ; Luciferases/genetics ; Nucleotides ; Phosphates

المؤلفون: Li X; Department of Nephrology, Fuyang People's Hospital, Anhui Medical University, Fuyang, Anhui, China., Ma Y; Department of Nephrology, Shenzhen Hospital, Southern Medical University, Shenzhen, China., Huang C; Department of Precision Medicine, Shenzhen Hospital, Southern Medical University, Shenzhen, China., Yang J; Cell Inspire Therapeutics, Shenzhen, China., Guo M; Department of General Practice, Shenzhen Hospital, Southern Medical University, Shenzhen, China., Xu X; Department of Precision Medicine, Shenzhen Hospital, Southern Medical University, Shenzhen, China. Electronic address: chubuyi@qq.com., Guo X; Department of Nephrology, Shenzhen Hospital, Southern Medical University, Shenzhen, China. Electronic address: guoxh8@smu.edu.cn.

المصدر: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103439. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , PHEX Phosphate Regulating Neutral Endopeptidase*/genetics , Mutation*, Humans ; Female ; Cell Line ; Familial Hypophosphatemic Rickets/genetics ; Familial Hypophosphatemic Rickets/pathology ; Cell Differentiation ; Rickets, Hypophosphatemic/genetics ; Vitamin D/analogs & derivatives

المؤلفون: Lecoq AL; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, 94 276 Le Kremlin Bicêtre Cedex, France., Schilbach K; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 80336 Munich, Germany., Rocher L; Université Paris-Saclay, BIOMAPS, UMR1281, AP-HP, Hôpital Antoine Béclère, Service de Radiologie, 92140 Clamart, France., Trabado S; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie, 94275 Le Kremlin Bicêtre Cedex, France., Briot K; Université Paris Cité, AP-HP, Hôpital Cochin, Service de Rhumatologie, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate Filière OSCAR, 75014 Paris, France., Herrou J; Université Paris Cité, AP-HP, Hôpital Cochin, Service de Rhumatologie, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate Filière OSCAR, 75014 Paris, France., Forbes A; AP-HP, Hôpital Bicêtre, Service de Biophysique et Médecine Nucléaire, 94275 Le Kremlin Bicêtre Cedex, France., Garnier A; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie, 94275 Le Kremlin Bicêtre Cedex, France., Piketty M; AP-HP, Hôpital Necker, Service d'Explorations fonctionnelles Physiologie et Neurophysiologie, 75015 Paris, France., Bidlingmaier M; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 80336 Munich, Germany., Rothenbuhler A; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et Diabétologie de l'Enfant, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Plateforme d'Expertise Paris Saclay Maladies Rares et Filière OSCAR, 94275 Le Kremlin Bicêtre Cedex, France., Linglart A; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et Diabétologie de l'Enfant, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Plateforme d'Expertise Paris Saclay Maladies Rares et Filière OSCAR, 94275 Le Kremlin Bicêtre Cedex, France., Carette C; Université Paris-Cité, AP-HP, Hôpital Européen Georges Pompidou, Service de Nutrition, Centre Spécialisé Obésité, 75015 Paris, France., Chaumet-Riffaud P; IHU FOReSIGHT, INSERM-DHOS CIC 1423, Hôpital National de la Vision des Quinze-Vingts, 75012 Paris, France., Kamenický P; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, 94 276 Le Kremlin Bicêtre Cedex, France.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2024 Aug 05; Vol. 191 (2), pp. 156-165.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/epidemiology , Fibroblast Growth Factor-23*, Humans ; Female ; Male ; Adult ; Prospective Studies ; Middle Aged ; Obesity, Metabolically Benign/epidemiology ; Obesity, Metabolically Benign/blood ; Young Adult ; Fibroblast Growth Factors/blood ; Cohort Studies ; Prevalence ; Body Mass Index ; Obesity/epidemiology ; Overweight/epidemiology ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics

عنوان ترانسليتريتد: 85例低血磷性佝偻病患儿诊断、治疗与随访的回顾性研究.

المؤلفون: Li HQ; Children's Hospital of Nanjing Medical University, Nanjing 210000, China com., Chen QX; Children's Hospital of Nanjing Medical University, Nanjing 210000, China com., Che RC; Children's Hospital of Nanjing Medical University, Nanjing 210000, China com., Zheng BX, Zhang AH; Children's Hospital of Nanjing Medical University, Nanjing 210000, China com., Chen Y; Children's Hospital of Nanjing Medical University, Nanjing 210000, China com.

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2024 Jul 15; Vol. 26 (7), pp. 677-682.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN: 1008-8830 (Print) Linking ISSN: 10088830 NLM ISO Abbreviation: Zhongguo Dang Dai Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Rickets, Hypophosphatemic*/genetics , Rickets, Hypophosphatemic*/etiology, Humans ; Male ; Female ; Child ; Retrospective Studies ; Child, Preschool ; Infant ; Adolescent ; Follow-Up Studies ; Alkaline Phosphatase/blood ; Body Height ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics ; Phosphates/blood ; Mutation

المؤلفون: Puente N; Service of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Santander, Spain.; Department of Medicine and Psychiatry, University of Cantabria, Santander, Spain.; Valdecilla Research Institute, Santander, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, ISCIII), Madrid, Spain., Solis P; Service of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Santander, Spain., Riancho JA; Service of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Santander, Spain - rianchoj@unican.es.; Department of Medicine and Psychiatry, University of Cantabria, Santander, Spain.; Valdecilla Research Institute, Santander, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, ISCIII), Madrid, Spain.

المصدر: Minerva medica [Minerva Med] 2024 Jun; Vol. 115 (3), pp. 320-336. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Edizioni Minerva Medica Country of Publication: Italy NLM ID: 0400732 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1827-1669 (Electronic) Linking ISSN: 00264806 NLM ISO Abbreviation: Minerva Med Subsets: MEDLINE

مواضيع طبية MeSH: Hypophosphatemia*/genetics , Hypophosphatemia*/etiology , Fibroblast Growth Factor-23* , Fibroblast Growth Factors*/metabolism , Fibroblast Growth Factors*/genetics , Parathyroid Hormone*/metabolism, Humans ; Phosphates/metabolism ; Vitamin D/metabolism ; Vitamin D/analogs & derivatives ; Klotho Proteins ; Phosphate Transport Proteins/genetics ; Phosphate Transport Proteins/metabolism ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics ; Intestinal Absorption/genetics ; Glucuronidase/genetics ; Glucuronidase/metabolism ; Phosphorus/metabolism

المؤلفون: Nakanishi T; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka 594-1101, Japan; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan., Yamazaki M; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka 594-1101, Japan., Tachikawa K; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka 594-1101, Japan., Ueta A; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka 594-1101, Japan; 1st Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Osaka 565-0871, Japan., Kawai M; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka 594-1101, Japan., Ozono K; Professor Emeritus, Osaka University, Japan., Michigami T; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka 594-1101, Japan. Electronic address: michigami@wch.opho.jp.

المصدر: Bone [Bone] 2024 Apr; Vol. 181, pp. 117044. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/genetics , Familial Hypophosphatemic Rickets*/metabolism , Induced Pluripotent Stem Cells*/metabolism , Hypophosphatemia*/genetics, Humans ; Male ; Mice ; Animals ; CRISPR-Cas Systems/genetics ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics ; Osteoblasts/metabolism ; Fibroblast Growth Factors/metabolism

المؤلفون: Tavana N; Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, UPM Serdang, Selangor, Malaysia., Ting TH; Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, UPM Serdang, Selangor, Malaysia. tingth@upm.edu.my., Lai K; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia., Thilakavathy K; Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, UPM Serdang, Selangor, Malaysia. thilathy@upm.edu.my.; Genetics and Regenerative Medicine Research Group, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, UPM Serdang, Selangor, Malaysia. thilathy@upm.edu.my.

المصدر: Italian journal of pediatrics [Ital J Pediatr] 2022 Dec 08; Vol. 48 (1), pp. 193. Date of Electronic Publication: 2022 Dec 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: PHEX Phosphate Regulating Neutral Endopeptidase*/genetics , Phosphates* , Rickets, Hypophosphatemic*/genetics , Extracellular Matrix Proteins*/genetics , Phosphoproteins*/genetics, Child ; Humans ; Exome Sequencing ; Malaysia