المؤلفون: Guido Filler, MD, PhD, Clara Schott, Fabio Rosario Salerno, MD, PhD cand., Andrea Ens, MD, Christopher William McIntyre, MD, PhD, Maria Esther Díaz González de Ferris, MD, PhD, MPH, Robert Stein, MD, MDCM

المصدر: Bone Reports, Vol 16, Iss , Pp 101591- (2022)

مصطلحات موضوعية: Hereditary hypophosphatemic rickets with hypercalciuria, Tubular phosphate wasting, Sodium phosphate cotransporter, 23Na MRI, Recombinant human growth hormone, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187222004259; https://doaj.org/toc/2352-1872

URL الوصول: https://doaj.org/article/0c42802fbec8463c9746c91fa6287bbb

المؤلفون: Zhu, Zewu, Bo-Ran Ho, Bryan, Chen, Alyssa, Amrhein, James, Apetrei, Andreea, Carpenter, Thomas Oliver, Lazaretti-Castro, Marise, Colazo, Juan Manuel, Mccrystal Dahir, Kathryn, Geßner, Michaela, Gurevich, Evgenia, Heier, Cathrine Alsaker, Simmons, Jill Hickman, Hunley, Tracy Earl, Hoppe, Bernd, Jacobsen, Christina, Kouri, Anne, Ma, Nina, Majumdar, Sachin, Molin, Arnaud, Nokoff, Natalie, Ott, Susan, Peña, Helena Gil, Santos, Fernando, Tebben, Peter, Topor, Lisa Swartz, Deng, Yanhong, Bergwitz, Clemens

المساهمون: Yale University New Haven, Service de Génétique CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Schott AG, Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU)

المصدر: ISSN: 0085-2538.

مصطلحات موضوعية: hereditary hypophosphatemic rickets with hypercalciuria, SLC34A3, responses to therapy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

الاتاحة: https://hal.science/hal-04577751
https://doi.org/10.1016/j.kint.2024.01.031

المؤلفون: Francesca Aiello, Daniela Pasquali, Federico Baronio, Alessandra Cassio, Cesare Rossi, Rosa Di Fraia, Raffaela Carotenuto, Lucia Digitale, Adalgisa Festa, Caterina Luongo, Giulio Maltoni, Roberta Schiano di Cola, Emanuele Miraglia Del Giudice, Anna Grandone

المساهمون: Aiello, Francesca, Pasquali, Daniela, Baronio, Federico, Cassio, Alessandra, Rossi, Cesare, Di Fraia, Rosa, Carotenuto, Raffaela, Digitale, Lucia, Festa, Adalgisa, Luongo, Caterina, Maltoni, Giulio, Schiano di Cola, Roberta, Del Giudice, Emanuele Miraglia, Grandone, Anna

المصدر: Journal of Pediatric Endocrinology and Metabolism. 36:91-95

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, hereditary hypophosphatemic rickets, PHEX intron variant, XLH mutational analysi

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1cf18deed86f3e9ac1642ad6702695a
https://doi.org/10.1515/jpem-2022-0365

المؤلفون: Fujii, Toru, Shiozaki, Yuji, Segawa, Hiroko, Nishiguchi, Shiori, Hanazaki, Ai, Noguchi, Miwa, Kirino, Ruri, Sasaki, Sumire, Tanifuji, Kazuya, Koike, Megumi, Yokoyama, Mizuki, Arima, Yuki, Kaneko, Ichiro, Tatsumi, Sawako, Ito, Mikiko, Miyamoto, Ken-ichi

المصدر: Clinical and Experimental Nephrology. 23 3

مصطلحات موضوعية: Phosphate, Transporter, Proximal tubule, Hereditary hypophosphatemic rickets with hypercalciuria

وصف الملف: application/pdf

URL الوصول: https://ndlsearch.ndl.go.jp/books/R100000039-I11458122

Degree: 博士（栄養学） -- 徳島大学

المؤلفون: Stephanie Christensen, Peter J. Tebben, Ana L. Creo, David J. Sas

المصدر: Hormone Research in Paediatrics. 94:374-389

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Urinary system, Hereditary Hypophosphatemic Rickets, Phosphates urine, medicine.disease, Asymptomatic, Endocrinology, Pediatrics, Perinatology and Child Health, medicine, Renal phosphate wasting, Hypercalciuria, medicine.symptom, Presentation (obstetrics), business, Wasting

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7a540eec1fda3ff8e51ec154293b2d4b
https://doi.org/10.1159/000520299

المساهمون: Schlingmann, Karl P., Ruminska, Justyna, Kaufmann, Martin, Dursun, Ismail, Patti, Monica, Kranz, Birgitta, Pronicka, Ewa, Ciara, Elzbieta, Akcay, Teoman, Bulus, Derya, Cornelissen, Elisabeth A. M., Gawlik, Aneta, Sikora, Przemyslaw, Patzer, Ludwig, Galiano, Matthias, Boyadzhiev, Veselin, Dumic, Miroslav, Vivante, Asaf, Kleta, Robert, Dekel, Benjamin, Levtchenko, Elena, Bindels, Rene J., Rust, Stephan, Forster, Ian C., Hernando, Nati, Jones, Glenville, Wagner, Carsten A., Konrad, Martin

مصطلحات موضوعية: HEREDITARY HYPOPHOSPHATEMIC RICKETS, GENE, IIA, NEPHROLITHIASIS, DIETARY, CYP24A1

وصف الملف: application/pdf

Relation: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY; https://hdl.handle.net/11424/241386; WOS:000368957600029

الاتاحة: https://hdl.handle.net/11424/241386
https://doi.org/10.1681/ASN.2014101025

المؤلفون: Sara L Hughes, Emma J. Hingston

المصدر: Dental Update. 46:1067-1072

مصطلحات موضوعية: 03 medical and health sciences, Pediatrics, medicine.medical_specialty, 0302 clinical medicine, Dentition, business.industry, medicine, Hereditary Hypophosphatemic Rickets, 030206 dentistry, Hypophosphataemic rickets, business, General Dentistry, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fc84e4ad4d78a855d9826c9fa930fe31
https://doi.org/10.12968/denu.2019.46.11.1067

المؤلفون: Pablo Florenzano, Matías Winter, Danisa Ivanovic-Zuvic, Iván Novoa, María Jesús Santander, Macarena Jiménez

المصدر: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-LaryngologyCervico-Facial SurgeryREFERENCES. 46(6)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Adolescent, Hearing loss, Hereditary Hypophosphatemic Rickets, Young Adult, AUDIOMETRIC ABNORMALITIES, otorhinolaryngologic diseases, Medicine, Humans, In patient, Child, Ear Diseases, business.industry, Serum phosphate, X-linked hypophosphatemia, medicine.disease, PHEX Phosphate Regulating Neutral Endopeptidase, Fibroblast Growth Factors, Cross-Sectional Studies, Otorhinolaryngology, Female, Familial Hypophosphatemic Rickets, medicine.symptom, business, Tinnitus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45cbbf0f39baf8c4839bcecf94fff16
https://pubmed.ncbi.nlm.nih.gov/34170626

المؤلفون: Daina Dreimane, Clemens Bergwitz, Alyssa Chen

المصدر: Therapeutic Advances in Musculoskeletal Disease

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, NPT2c, 030232 urology & nephrology, Rickets, Case Report, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Rheumatology, Internal medicine, medicine, Orthopedics and Sports Medicine, Hypercalciuria, Allele, Exome sequencing, Sanger sequencing, Mutation, Reabsorption, business.industry, medicine.disease, 030104 developmental biology, Endocrinology, growth hormone, symbols, Hereditary Hypophosphatemic Rickets with Hypercalciuria, SLC34A3, business, Hypophosphatemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11d611fc993410940b7ebd73bd42ebc
http://europepmc.org/articles/PMC7488884

المؤلفون: Mohsen Zena, Sima Maraqa, Joshua Samec, Anusha Pinjala, Alheli Arce Gastelum

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Bone and Mineral Metabolism, Hereditary Hypophosphatemic Rickets, medicine.disease, Phosphate, Gastroenterology, chemistry.chemical_compound, chemistry, Internal medicine, medicine, Secondary hyperparathyroidism, Complication, business, Bone and Mineral Case Reports I, AcademicSubjects/MED00250

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::086014ba387034ebc059264896cc8f32
http://europepmc.org/articles/PMC7208970

المؤلفون: Hasani-Ranjbar, Shirin, Ejtahed, Hanieh-Sadat, Amoli, Mahsa M., Bitarafan, Fatemeh, Qorbani, Mostafa, Soltani, Akbar, Yarjoo, Bahareh

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: hypophosphatemia, Hereditary hypophosphatemic rickets with hypercalciuria, SLC34A3 gene, Original Article, hypercalciuria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0ab8043f64c8d290eca18e2de542ab7f
http://europepmc.org/articles/PMC6280320

المؤلفون: Fujii, Toru, Shiozaki, Yuji, Segawa, Hiroko, Nishiguchi, Shiori, Hanazaki, Ai, Noguchi, Miwa, Kirino, Ruri, Sasaki, Sumire, Tanifuji, Kazuya, Koike, Megumi, Yokoyama, Mizuki, Arima, Yuki, Kaneko, Ichiro, Tatsumi, Sawako, Ito, Mikiko, Miyamoto, Ken-ichi

المصدر: Clinical and Experimental Nephrology. 23(3):313-324

مصطلحات موضوعية: Hereditary hypophosphatemic rickets with hypercalciuria, Proximal tubule, Phosphate, Transporter

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=jairo_______::3541d500cb345a9e31685c0950d191d7
http://repo.lib.tokushima-u.ac.jp/113363

المؤلفون: Colazo, Juan M., Reasoner, Seth A., Holt, Ginger, Faugere, Marie-Claude M., Dahir, Kathryn M.

المصدر: Internal Medicine Faculty Publications

مصطلحات موضوعية: Hereditary Hypophosphatemic Rickets with Hypercalciuria, HHRH, Genu Valgum Deformity, Phosphate Supplementation, Surgical Correction, Endocrinology, Diabetes, and Metabolism

وصف الملف: application/pdf

Relation: Information and data can be accessed from the submitting author ( juan.m.colazo@vanderbilt.edu ) or the corresponding author ( kathryn.dahir@vumc.org ) via email.; https://uknowledge.uky.edu/internalmedicine_facpub/214; https://uknowledge.uky.edu/cgi/viewcontent.cgi?article=1214&context=internalmedicine_facpub

الاتاحة: https://uknowledge.uky.edu/internalmedicine_facpub/214
https://uknowledge.uky.edu/cgi/viewcontent.cgi?article=1214&context=internalmedicine_facpub

المؤلفون: Yufei Shi, Sezer Acar, Korcan Demir

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: 0301 basic medicine, Vitamin, Endocrinology, Diabetes and Metabolism, Hereditary Hypophosphatemic Rickets, chemistry.chemical_element, Physiology, 030209 endocrinology & metabolism, Rickets, Review, Calcium, Child health, hypophosphatemic rickets, Metabolic bone disease, Nutritional Rickets, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, medicine, Humans, Vitamin D metabolism, business.industry, medicine.disease, Fibroblast Growth Factor-23, 030104 developmental biology, chemistry, Pediatrics, Perinatology and Child Health, Familial Hypophosphatemic Rickets, genetic, business, hereditary, vitamin D dependent

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c3dc3dbf1f52b8c62fd5d58302869a5
https://doi.org/10.4274/jcrpe.2017.s008

المؤلفون: Matías Pujana, Gabriela Guercio, Gisela Viterbo, Alicia Belgorosky, Natalia Perez Garrido, Maria Sol Del Pino, Valeria De Dona, Pablo Ramírez, Roxana Marino, Victoria Fano, Elisa Vaiani, M. Arenas

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: General Pediatric Endocrinology, T1D, Hypoglycemia, and Growth, Pediatrics, medicine.medical_specialty, Body proportions, Pediatric Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Longitudinal growth, medicine, Hereditary Hypophosphatemic Rickets, Single Center, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668950bd015e9fece28ee878706dcc82
https://doi.org/10.1210/js.2019-sat-lb051

المؤلفون: Ana L. Creo, David J. Sas, Peter J. Tebben, Stephanie Christensen

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pediatric Endocrinology, Pediatric Endocrinology Case Report, business.industry, Endocrinology, Diabetes and Metabolism, medicine, Hereditary Hypophosphatemic Rickets, Hypercalciuria, Presentation (obstetrics), medicine.disease, business, AcademicSubjects/MED00250

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dae91f35e30b4fc31fea16085b2b2cf
https://doi.org/10.1210/jendso/bvab048.1442

المؤلفون: Shirin Hasani-Ranjbar, Bahareh Yarjoo, Mostafa Qorbani, Mahsa M. Amoli, Fatemeh Bitarafan, Akbar Soltani, Hanieh-Sadat Ejtahed

المصدر: Journal of Clinical Research in Pediatric Endocrinology.

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Hereditary Hypophosphatemic Rickets, 030209 endocrinology & metabolism, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Pediatrics, Perinatology and Child Health, Medicine, Hypercalciuria, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a6181b3063b17f8c05a1e5713bd55653
https://doi.org/10.4274/jcrpe.0057

المؤلفون: Shirin Hasani-Ranjbar, Parvin Amiri, Azadeh Ebrahim-Habibi, Ehsan Dehghan, Akbar Soltani, Bagher Larijani, Mahsa M. Amoli

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: Adult, Male, Hypophosphatemia, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Hypercalciuria, Molecular Sequence Data, Hereditary Hypophosphatemic Rickets, Disease, Sodium-Phosphate Cotransporter Proteins, Type IIc, medicine.disease_cause, Endocrinology, nephrocalcinosis, Medicine, Humans, Genetic Predisposition to Disease, Child, Gene, Genetics, Family Health, Mutation, Base Sequence, business.industry, Intron, Chromosome, hereditary hypophosphatemic rickets with hypercalciuria, medicine.disease, Introns, Pedigree, Pediatrics, Perinatology and Child Health, SLC34A3 gene, Original Article, Female, Familial Hypophosphatemic Rickets, business, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3de4eb1805cec6dc2e69037074cb0fe
http://europepmc.org/articles/PMC3386779

المؤلفون: T-M Croonenborghs, Constantinus Politis, K Grisar

المصدر: Oral Health and Care. 3

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Hereditary Hypophosphatemic Rickets, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8bfc94d06298b1e3ec4c1490f8c79fa5
https://doi.org/10.15761/ohc.1000137

المؤلفون: Subal Ku, Pawan Mutalik, Arakhita Swain

المصدر: IOSR Journal of Dental and Medical Sciences. 13:23-27

مصطلحات موضوعية: medicine.medical_specialty, Vitamin d supplementation, business.industry, Hereditary Hypophosphatemic Rickets, Rickets, medicine.disease, Gastroenterology, Hyperphosphaturia, Endocrinology, Internal medicine, medicine, Vitamin D and neurology, Hypercalciuria, medicine.symptom, business, Wasting, Hypophosphatemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::79a6c419450a8832e7eb8dc5d98941ee
https://doi.org/10.9790/0853-13232327