المؤلفون: Dahir KM; Program for Metabolic Bone Disorders, Vanderbilt University Medical Center, Nashville, TN, United States., Shannon A; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA, United States., Dunn D; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA, United States., Voegtli W; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA, United States., Dong Q; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA, United States., Hasan J; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA, United States., Pradhan R; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA, United States., Pelto R; Bioanalytical and Biomarker Development, Alexion, AstraZeneca Rare Disease, New Haven, CT, United States., Pan WJ; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA, United States.

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2024 Aug 13. Date of Electronic Publication: 2024 Aug 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

المؤلفون: Glorieux FH; Departments of Surgery, Pediatrics and Human Genetics, Shriners Hospitals for Children, McGill University, Montreal, Quebec, Canada., Langdahl B; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Chapurlat R; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Inserm UMR 1033, Edouard Herriot Hospital, Lyon, France., De Beur SJ; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States., Sutton VR; Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston TX, United States., Poole KES; Department of Medicine & Cambridge NIHR Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom., Dahir KM; Division of Endocrinology, Vanderbilt University Medical Center, Nashville, TN, United States., Orwoll ES; Division of Endocrinology, Diabetes and Clinical Nutrition, School of Medicine, Oregon Health & Sciences University, Portland, OR, United States., Willie BM; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, Canada.; Shriners Hospitals for Children, Montreal, Quebec, Canada., Mikolajewicz N; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, Canada.; Shriners Hospitals for Children, Montreal, Quebec, Canada., Zimmermann E; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, Canada.; Shriners Hospitals for Children, Montreal, Quebec, Canada., Hosseinitabatabaei S; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, Canada.; Shriners Hospitals for Children, Montreal, Quebec, Canada., Ominsky MS; Ultragenyx Pharmaceutical Inc, Novato, CA, United States., Saville C; ICON Plc, Dublin, Ireland., Clancy J; Mereo BioPharma, London, United Kingdom., MacKinnon A; Mereo BioPharma, London, United Kingdom., Mistry A; Mereo BioPharma, London, United Kingdom., Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS), University of Oxford, Oxford, United Kingdom.

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2024 Jul 16. Date of Electronic Publication: 2024 Jul 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

المؤلفون: Jan de Beur SM; Division of Endocrinology and Metabolism, Department of Medicine, University of Virginia, Charlottesville, VA, USA., Dahir KM; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Imel EA; Departments of Medicine and Pediatrics (Endocrinology), Indiana University School of Medicine, Indianapolis, Indiana, USA., Zanchetta MB; Instituto de Investigaciones Metabólicas, Universidad del Salvador, Buenos Aires, Argentina., Williams A; Kyowa Kirin International, Marlow, UK., Li Z; Kyowa Kirin North America, Bedminster, USA., Webb N; Source Health Economics, Oxford, UK., Crowe V; Source Health Economics, Oxford, UK., Johnson B; Kyowa Kirin International, Marlow, UK., Carpenter TO; Departments of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation, Yale School of Medicine, New Haven, Connecticut, USA.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Jun 24. Date of Electronic Publication: 2024 Jun 24.

نوع المنشور: Journal Article

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

المؤلفون: Kishnani PS; Duke University Medical Center, Durham, North Carolina, USA., Seefried L; University of Würzburg, Würzburg, Germany., Dahir KM; Vanderbilt University Medical Center, Nashville, Tennessee, USA., Martos-Moreno GÁ; Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain., Linglart A; Paris-Saclay University, AP-HP and INSERM, Paris, France., Petryk A; Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA., Mowrey WR; Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA., Fang S; Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA., Ozono K; Iseikai International General Hospital, Kita Ward, Osaka, Japan., Högler W; Johannes Kepler University Linz, Linz, Austria., Rockman-Greenberg C; University of Manitoba, Winnipeg, Manitoba, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun 17, pp. e63781. Date of Electronic Publication: 2024 Jun 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

المؤلفون: Dahir KM; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, 1215 21st Ave S Suite 8210, Nashville, TN, 37232, USA. kathryn.dahir@vumc.org., Rush ET; Division of Clinical Genetics, Children's Mercy Kansas City, 2401 Gillham Rd, Kansas City, MO, 64108, USA. etrush@cmh.edu.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA. etrush@cmh.edu.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA. etrush@cmh.edu., Diaz-Mendoza S; OPEN Health Group, Marlow, UK., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.

المصدر: Journal of endocrinological investigation [J Endocrinol Invest] 2024 Jun; Vol. 47 (6), pp. 1487-1497. Date of Electronic Publication: 2024 Jan 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE

مواضيع طبية MeSH: Hypophosphatasia*/diagnosis , Delphi Technique* , Disease Progression* , Consensus* , Severity of Illness Index*, Humans ; Adult ; United States/epidemiology ; Female ; Male ; Health Personnel ; Surveys and Questionnaires

المؤلفون: Dahir KM; Endocrinology and Diabetes, Vanderbilt University Medical Center, Nashville, TN 37232, United States., Ing SW; Division of Endocrinology, Diabetes, and Metabolism, Wexner Medical Center, Ohio State University, Columbus, OH 43210, United States., Deal C; Department of Rheumatology, Center for Osteoporosis and Metabolic Bone Disease, Cleveland Clinic, Cleveland, OH 44195, United States., Messali A; Health Economics and Outcomes Research (AM) and Medical Affairs (CD), Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States., Bates T; Health Economics and Outcomes Research (AM) and Medical Affairs (CD), Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States., Rush ET; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, United States.; Department of Pediatrics, University of Missouri - Kansas City School of Medicine, Kansas City, MO 64108, United States.

المصدر: JBMR plus [JBMR Plus] 2024 May 07; Vol. 8 (8), pp. ziae062. Date of Electronic Publication: 2024 May 07 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE

المؤلفون: Khan AA; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada. aliya@mcmaster.ca., Brandi ML; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy.; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy., Rush ET; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Division of Endocrinology, Metabolism, Osteoporosis and Genetics, Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Ali DS; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Al-Alwani H; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Almonaei K; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Alsarraf F; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Bacrot S; Department of Genetics, Centre Hospitalier de Versailles, Hôpital André Mignot, Versailles, France., Dahir KM; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA., Dandurand K; Department of Medicine, Endocrinology and Metabolism, Université de Sherbrooke, Sherbrooke, QC, Canada., Deal C; Center for Osteoporosis and Metabolic Bone Disease, Department of Rheumatology, The Cleveland Clinic Foundation, Cleveland, OH, USA., Ferrari SL; Division of Bone Diseases, Department of Internal Medicine Specialties, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland., Giusti F; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy., Guyatt G; Department of Health Research Methods, Evidence and Impact at McMaster University, Hamilton, Canada., Hatcher E; Neuromuscular Clinic, McMaster University Medical Centre, Hamilton Health Sciences, Hamilton, Canada., Ing SW; Division of Endocrinology, Diabetes & Metabolism, Ohio State University Wexner Medical Center, Columbus, OH, USA., Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK., Khan S; Bone Research and Education Centre, Oakville, ON, Canada., Kocijan R; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA, Trauma Centre Meidling, 1St Medical Department Hanusch Hospital, 1140, Vienna, Austria., Linglart A; APHP, Bicêtre Paris-Sud, UniversityParis Sud, Paris-Saclay, Le Kremlin Bicêtre, Paris, France., M'Hiri I; Bone Research and Education Centre, Oakville, ON, Canada., Marini F; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy., Nunes ME; Division of Medical Genetics and Metabolism, Valley Children's HealthCare, Madera, CA, USA., Rockman-Greenberg C; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Roux C; INSERM CRESS UMR 1153, Paris, France.; Department of Rheumatology, APHP-Centre, Cochin Hospital, Université Paris-Cité, Paris, France., Seefried L; Musculoskeletal Center Wuerzburg, University of Würzburg, Würzburg, Germany., Simmons JH; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA., Starling SR; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Ward LM; Children's Hospital of Eastern Ontario, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Yao L; Department of Health Research Methods, Evidence and Impact at McMaster University, Hamilton, Canada., Brignardello-Petersen R; Department of Health Research Methods, Evidence and Impact at McMaster University, Hamilton, Canada., Michael Lewiecki E; New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, USA.

المصدر: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA [Osteoporos Int] 2024 May; Vol. 35 (5), pp. 933-934.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Springer International Country of Publication: England NLM ID: 9100105 Publication Model: Print Cited Medium: Internet ISSN: 1433-2965 (Electronic) Linking ISSN: 0937941X NLM ISO Abbreviation: Osteoporos Int Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Kishnani PS; Department of Pediatrics, Duke University Medical Center, 2351 Erwin Road, Durham, NC, 27710, USA. Priya.Kishnani@duke.edu., Martos-Moreno GÁ; Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain., Linglart A; Paris-Saclay University, AP-HP and INSERM, Paris, France., Petryk A; Alexion, AstraZeneca Rare Disease, Boston, MA, USA., Messali A; Alexion, AstraZeneca Rare Disease, Boston, MA, USA., Fang S; Alexion, AstraZeneca Rare Disease, Boston, MA, USA., Rockman-Greenberg C; University of Manitoba, Winnipeg, MB, Canada., Ozono K; Osaka University, Suita, Osaka, Japan., Högler W; Johannes Kepler University Linz, Linz, Austria., Seefried L; University of Würzburg, Würzburg, Germany., Dahir KM; Vanderbilt University Medical Center, Nashville, TN, USA.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 08; Vol. 19 (1), pp. 109. Date of Electronic Publication: 2024 Mar 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Hypophosphatasia*/drug therapy , Chronic Pain* , Immunoglobulin G* , Recombinant Fusion Proteins*, Adult ; Humans ; Alkaline Phosphatase/therapeutic use ; Quality of Life ; Prospective Studies ; Registries ; Enzyme Replacement Therapy/methods

المؤلفون: Brandi ML; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy. marialuisa.brandi@unifi.it.; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy. marialuisa.brandi@unifi.it., Khan AA; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Rush ET; Division of Clinical Genetics, Children's Mercy Kansas City and Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Division of Endocrinology, Metabolism, Osteoporosis, and Genetics, Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA., Ali DS; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Al-Alwani H; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Almonaei K; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Alsarraf F; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Bacrot S; Department of Genetics, Centre Hospitalier de Versailles, Hôpital André Mignot, Versailles, France., Dahir KM; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA., Dandurand K; Department of Medicine, Endocrinology and Metabolism, Université de Sherbrooke, Sherbrooke, QC, Canada., Deal C; Center for Osteoporosis and Metabolic Bone Disease, Department of Rheumatology, The Cleveland Clinic Foundation, Cleveland, OH, USA., Ferrari SL; Division of Bone Diseases, Department of Internal Medicine Specialties, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland., Giusti F; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy., Guyatt G; Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada., Hatcher E; Neuromuscular Clinic, McMaster University Medical Centre, Hamilton Health Sciences, Hamilton, ON, Canada., Ing SW; Division of Endocrinology, Diabetes, & Metabolism, Ohio State University Wexner Medical Center, Columbus, OH, USA., Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK., Khan S; Bone Research and Education Centre, Oakville, ON, Canada., Kocijan R; Trauma Centre Meidling, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA, 1St Medical Department Hanusch Hospital, 1140, Vienna, Austria., Lewiecki EM; New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, USA., Linglart A; APHP, Bicêtre Paris-Sud, University Paris Sud, Paris-Saclay, Le Kremlin Bicêtre, Paris, France., M'Hiri I; Bone Research and Education Centre, Oakville, ON, Canada., Marini F; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy., Nunes ME; Division of Medical Genetics and Metabolism, Valley Children's HealthCare, Madera, CA, USA., Rockman-Greenberg C; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Seefried L; Musculoskeletal Center Würzburg, University of Würzburg, Würzburg, Germany., Simmons JH; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA., Starling SR; Division of Clinical Genetics, Children's Mercy Kansas City and Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Ward LM; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Yao L; Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada., Brignardello-Petersen R; Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada., Roux C; INSERM CRESS UMR 1153, Paris, France.; Université Paris-Cité, Department of Rheumatology, APHP-Centre, Cochin Hospital, Paris, France.

المصدر: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA [Osteoporos Int] 2024 Mar; Vol. 35 (3), pp. 439-449. Date of Electronic Publication: 2023 Nov 20.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer International Country of Publication: England NLM ID: 9100105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-2965 (Electronic) Linking ISSN: 0937941X NLM ISO Abbreviation: Osteoporos Int Subsets: MEDLINE

مواضيع طبية MeSH: Hypophosphatasia*/diagnosis , Hypophosphatasia*/epidemiology , Hypophosphatasia*/genetics, Infant ; Adult ; Infant, Newborn ; Humans ; Alkaline Phosphatase/genetics ; Mutation ; Prevalence

المؤلفون: Khan AA; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada. aliya@mcmaster.ca., Brandi ML; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy.; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy., Rush ET; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Division of Endocrinology, Metabolism, Osteoporosis and Genetics, Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Ali DS; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Al-Alwani H; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Almonaei K; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Alsarraf F; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Bacrot S; Department of Genetics, Centre Hospitalier de Versailles, Hôpital André Mignot, Versailles, France., Dahir KM; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA., Dandurand K; Department of Medicine, Endocrinology and Metabolism, Université de Sherbrooke, Sherbrooke, QC, Canada., Deal C; Center for Osteoporosis and Metabolic Bone Disease, Department of Rheumatology, The Cleveland Clinic Foundation, Cleveland, OH, USA., Ferrari SL; Division of Bone Diseases, Department of Internal Medicine Specialties, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland., Giusti F; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy., Guyatt G; Department of Health Research Methods, Evidence and Impact at McMaster University, Hamilton, Canada., Hatcher E; Neuromuscular Clinic, McMaster University Medical Centre, Hamilton Health Sciences, Hamilton, Canada., Ing SW; Division of Endocrinology, Diabetes & Metabolism, Ohio State University Wexner Medical Center, Columbus, OH, USA., Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK., Khan S; Bone Research and Education Centre, Oakville, ON, Canada., Kocijan R; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA, Trauma Centre Meidling, 1St Medical Department Hanusch Hospital, 1140, Vienna, Austria., Linglart A; APHP, Bicêtre Paris-Sud, UniversityParis Sud, Paris-Saclay, Le Kremlin Bicêtre, Paris, France., M'Hiri I; Bone Research and Education Centre, Oakville, ON, Canada., Marini F; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy., Nunes ME; Division of Medical Genetics and Metabolism, Valley Children's HealthCare, Madera, CA, USA., Rockman-Greenberg C; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Roux C; INSERM CRESS UMR 1153, Paris, France.; Université Paris-Cité, Department of Rheumatology, APHP-Centre, Cochin Hospital, Paris, France., Seefried L; Musculoskeletal Center Wuerzburg, University of Würzburg, Würzburg, Germany., Simmons JH; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA., Starling SR; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Ward LM; Children's Hospital of Eastern Ontario, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Yao L; Department of Health Research Methods, Evidence and Impact at McMaster University, Hamilton, Canada., Brignardello-Petersen R; Department of Health Research Methods, Evidence and Impact at McMaster University, Hamilton, Canada., Lewiecki EM; New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, USA.

المصدر: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA [Osteoporos Int] 2024 Mar; Vol. 35 (3), pp. 431-438. Date of Electronic Publication: 2023 Nov 20.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer International Country of Publication: England NLM ID: 9100105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-2965 (Electronic) Linking ISSN: 0937941X NLM ISO Abbreviation: Osteoporos Int Subsets: MEDLINE

مواضيع طبية MeSH: Hypophosphatasia*/diagnosis , Hypophosphatasia*/genetics, Adult ; Child ; Humans ; Mutation ; Retrospective Studies ; Alkaline Phosphatase/genetics ; Genotype ; Phenotype