المؤلفون: Prithvi A; Department of Paediatrics, St John's Medical College Hospital, Bangalore, India., Kodethoor D; Department of Paediatrics, St John's Medical College Hospital, Bangalore, India., K S; Department of Paediatrics, St John's Medical College Hospital, Bangalore, India., Lewin S; Department of Paediatrics, St John's Medical College Hospital, Bangalore, India.

المصدر: Paediatrics and international child health [Paediatr Int Child Health] 2024 Aug; Vol. 44 (2), pp. 52-54. Date of Electronic Publication: 2024 Apr 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101582666 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2046-9055 (Electronic) Linking ISSN: 20469047 NLM ISO Abbreviation: Paediatr Int Child Health Subsets: MEDLINE

مواضيع طبية MeSH: Osteopetrosis*/diagnosis , Osteopetrosis*/complications , Osteopetrosis*/diagnostic imaging, Humans ; Male ; Infant ; Radiography ; Developmental Disabilities/etiology ; Splenomegaly/diagnostic imaging ; Splenomegaly/etiology ; Hepatomegaly/diagnostic imaging ; Hepatomegaly/etiology ; Nystagmus, Pathologic/etiology ; Thrombocytopenia/diagnosis ; Anemia/etiology ; Anemia/diagnosis

المؤلفون: Saffie-Siebert S; SiSaf Ltd, Guildford, Surrey, GU2 7RE, UK. saffie@sisaf.com., Alam I; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. ialam@iu.edu., Sutera FM; SiSaf Ltd, Guildford, Surrey, GU2 7RE, UK., Dehsorkhi A; SiSaf Ltd, Guildford, Surrey, GU2 7RE, UK., Torabi-Pour N; SiSaf Ltd, Guildford, Surrey, GU2 7RE, UK., Baran-Rachwalska P; SiSaf Ltd, Guildford, Surrey, GU2 7RE, UK., Iamartino L; SiSaf Ltd, Guildford, Surrey, GU2 7RE, UK., Teti A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy., Maurizi A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy., Gerard-O'Riley RL; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Acton D; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Econs MJ; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.

المصدر: Calcified tissue international [Calcif Tissue Int] 2024 Jul; Vol. 115 (1), pp. 85-96. Date of Electronic Publication: 2024 May 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

مواضيع طبية MeSH: Chloride Channels*/genetics , Osteopetrosis*/genetics , Osteopetrosis*/therapy , RNA, Small Interfering*/administration & dosage , RNA, Small Interfering*/genetics , Nanoparticles* , Phenotype* , Alleles*, Animals ; Mice ; Bone and Bones/metabolism ; Bone and Bones/drug effects ; Disease Models, Animal

المؤلفون: Fang D; Department of Orthopaedics, Dongyang People's Hospital, Wenzhou Medical University Affiliated Dongyang Hospital, No. 60 Wuning West Road, Dongyang, Zhejiang, 322100, PR China. Electronic address: fangdongxue2015@163.com., He H; Department of Orthopaedics, Dongyang People's Hospital, Wenzhou Medical University Affiliated Dongyang Hospital, No. 60 Wuning West Road, Dongyang, Zhejiang, 322100, PR China., Liu Z; Department of Orthopaedics, Dongyang People's Hospital, Wenzhou Medical University Affiliated Dongyang Hospital, No. 60 Wuning West Road, Dongyang, Zhejiang, 322100, PR China.

المصدر: Asian journal of surgery [Asian J Surg] 2024 Sep; Vol. 47 (9), pp. 4106-4108. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8900600 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0219-3108 (Electronic) Linking ISSN: 10159584 NLM ISO Abbreviation: Asian J Surg Subsets: MEDLINE

مواضيع طبية MeSH: Osteopetrosis*/complications , Osteopetrosis*/diagnosis , Osteopetrosis*/diagnostic imaging , Hip Fractures*/surgery , Hip Fractures*/diagnostic imaging , Hip Fractures*/etiology, Humans ; Male ; Female ; Femoral Fractures/surgery ; Femoral Fractures/diagnostic imaging ; Femoral Fractures/etiology

المؤلفون: Vaishya R; Department of Orthopaedics and Joint Replacement Surgery, Indraprastha Apollo Hospitals, New Delhi, India., Vaish A; Orthopedics, Indraprastha Apollo Hospital, New Delhi, India., Botchu R; Radiology, Royal Orthopaedic Hospital, Birmingham, UK., Iyengar KP; Trauma & Orthopaedics, Southport and Ormskirk Hospitals, Mersey West Lancashire Teaching NHS Trust, Southport, UK Kartik.Iyengar@merseywestlancs.nhs.uk.

المصدر: BMJ case reports [BMJ Case Rep] 2024 Jul 24; Vol. 17 (7). Date of Electronic Publication: 2024 Jul 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Osteopetrosis*/complications , Osteopetrosis*/diagnostic imaging , Recurrence*, Humans ; Adolescent ; Male ; Female ; Radiography

المؤلفون: Kim BC; Laboratory of Orthopedic Research, Chosun University Hospital, Republic of Korea; Departments of Premedical Science, College of Medicine, Chosun University, Gwangju 61452, Republic of Korea., Lee G; Laboratory of Orthopedic Research, Chosun University Hospital, Republic of Korea; Departments of Orthopaedic Surgery, College of Medicine, Chosun University, Gwangju 61452, Republic of Korea., Jang Y; Laboratory of Orthopedic Research, Chosun University Hospital, Republic of Korea; Departments of Premedical Science, College of Medicine, Chosun University, Gwangju 61452, Republic of Korea., Kim DO; Laboratory of Orthopedic Research, Chosun University Hospital, Republic of Korea; Departments of Premedical Science, College of Medicine, Chosun University, Gwangju 61452, Republic of Korea., Ju J; Laboratory of Orthopedic Research, Chosun University Hospital, Republic of Korea; Departments of Premedical Science, College of Medicine, Chosun University, Gwangju 61452, Republic of Korea., Lee CM; Regional Leading Research Center, Chonnam National University, Yeosu 59626, Republic of Korea; School of Healthcare and Biomedical Engineering, Chonnam National University, Yeosu 59626, Republic of Korea., Lim W; Laboratory of Orthopedic Research, Chosun University Hospital, Republic of Korea; Departments of Premedical Science, College of Medicine, Chosun University, Gwangju 61452, Republic of Korea; Departments of Orthopaedic Surgery, College of Medicine, Chosun University, Gwangju 61452, Republic of Korea; Regional Leading Research Center, Chonnam National University, Yeosu 59626, Republic of Korea. Electronic address: wonbong@chosun.ac.kr.

المصدر: Tissue & cell [Tissue Cell] 2024 Jun; Vol. 88, pp. 102412. Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Churchill Livingstone Country of Publication: Scotland NLM ID: 0214745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3072 (Electronic) Linking ISSN: 00408166 NLM ISO Abbreviation: Tissue Cell Subsets: MEDLINE

مواضيع طبية MeSH: Osteopetrosis*/genetics , Osteopetrosis*/pathology , Osteopetrosis*/metabolism , RANK Ligand*/metabolism , RANK Ligand*/genetics , Disease Models, Animal* , Osteoclasts*/metabolism , Osteoclasts*/pathology, Animals ; Mice ; Mutation

المؤلفون: Funck-Brentano T; Reference Center for Rare Bone Diseases and Department of Rheumatology, Hôpital Lariboisière, APHP, Université Paris Cité, Paris, France; INSERM UMR1132 BIOSCAR, Paris, France. Electronic address: thomas.funck-brentano@aphp.fr., Zillikens MC; Bone Center, Department of Internal Medicine. Erasmus MC, University Medical Center Rotterdam, the Netherlands., Clunie G; Metabolic Bone Physician, Cambridge University Hospitals, Box 204, Hills Rd, Cambridge, CB2 0QQ, UK., Siggelkow H; MVZ Endokrinologikum, Göttingen, Germany; Clinic of Gastroenterology, Gastrointestinal Oncology and Endocrinology, University Medical Center, 37075, Göttingen, Germany., Appelman-Dijkstra NM; Center for Bone Quality, Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands., Cohen-Solal M; Reference Center for Rare Bone Diseases and Department of Rheumatology, Hôpital Lariboisière, APHP, Université Paris Cité, Paris, France; INSERM UMR1132 BIOSCAR, Paris, France. Electronic address: martine.cohen-solal@inserm.fr.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104936. Date of Electronic Publication: 2024 Apr 07.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Osteopetrosis*/genetics , Osteopetrosis*/pathology , Osteoclasts*/pathology, Humans ; Adult ; Chloride Channels/genetics ; Mutation

المؤلفون: Shamsian BS; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Momtazmanesh N; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Saneifard H; Pediatric Endocrinology and Metabolism Department, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Tabatabaei SMTH; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Jafari M; Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran., Pour ZK; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Al-Hussieni KJMR; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Jamee M; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Kamfar S; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

المصدر: Pediatric transplantation [Pediatr Transplant] 2024 May; Vol. 28 (3), pp. e14689.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE

مواضيع طبية MeSH: Osteopetrosis*/genetics , Osteopetrosis*/therapy , Hematopoietic Stem Cell Transplantation* , Urea Cycle Disorders, Inborn*, Carbonic Anhydrases/*deficiency, Humans ; Male ; Child, Preschool ; Iran ; Carbonic Anhydrase II/genetics ; Carbonic Anhydrase II/deficiency ; Acidosis, Renal Tubular/genetics ; Acidosis, Renal Tubular/therapy ; Transplantation, Homologous

SCR Disease Name: Osteopetrosis with renal tubular acidosis

المؤلفون: Jodeh W; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Katz AJ; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Hart M; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Warden SJ; Department of Physical Therapy, Indiana University School of Health & Human Sciences, Indianapolis, IN 46202, USA., Niziolek P; Department of Radiology, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Alam I; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Ing S; Division of Endocrinology, Diabetes, and Metabolism, Ohio State University Wexner Medical Center, Columbus, OH 43210, USA., Polgreen LE; The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA., Imel EA; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Econs MJ; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Jun 17; Vol. 109 (7), pp. 1726-1732.

نوع المنشور: Journal Article; Case Reports

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: Osteopetrosis*/genetics , Mutation, Missense* , Pedigree*, Humans ; Male ; Female ; Adult ; Vacuolar Proton-Translocating ATPases/genetics ; Phenotype ; Middle Aged ; Genes, Dominant

المؤلفون: McLuckey MN; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, 550 N University Boulevard, Room 0063, Indianapolis, IN, 46202, USA. morgan.mcluckey@gmail.com., Imel EA; Department of Medicine and Pediatrics, Indiana University School of Medicine, 1120 W. Michigan Street, Room 380, Indianapolis, IN, 46202, USA., Forbes-Amrhein MM; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Riley Hospital for Children, 705 Riley Hospital Drive, Room 1053, Indianapolis, IN, 46202, USA.

المصدر: Pediatric radiology [Pediatr Radiol] 2024 Jun; Vol. 54 (7), pp. 1105-1115. Date of Electronic Publication: 2024 Mar 14.

نوع المنشور: Journal Article; Review; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0365332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1998 (Electronic) Linking ISSN: 03010449 NLM ISO Abbreviation: Pediatr Radiol Subsets: MEDLINE

مواضيع طبية MeSH: Osteopetrosis*/diagnostic imaging, Humans ; Child ; Diagnosis, Differential ; Adolescent ; Infant

المؤلفون: Poursalehian M; Joint Reconstruction Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Orthopedic Surgery Department, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Bahmani M; Joint Reconstruction Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Orthopedic Surgery Department, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Ghorbanzadeh M; Joint Reconstruction Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Orthopedic Surgery Department, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Mortazavi SMJ; Joint Reconstruction Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Orthopedic Surgery Department, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.

المصدر: JBJS case connector [JBJS Case Connect] 2024 May 10; Vol. 14 (2). Date of Electronic Publication: 2024 May 10 (Print Publication: 2024).

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Wolters Kluwer Country of Publication: United States NLM ID: 101596828 Publication Model: eCollection Cited Medium: Internet ISSN: 2160-3251 (Electronic) Linking ISSN: 21603251 NLM ISO Abbreviation: JBJS Case Connect Subsets: MEDLINE

مواضيع طبية MeSH: Arthroplasty, Replacement, Hip*/methods , Osteopetrosis*/surgery , Osteopetrosis*/complications, Humans ; Female ; Hip Fractures/surgery ; Male ; Middle Aged ; Fracture Fixation, Internal/methods ; Aged