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Hypophosphatemic Rickets, Recessive

MedGen UID:
893670
Concept ID:
CN239452
Disease or Syndrome

Professional guidelines

PubMed

Bai X, Levental M, Karaplis AC
J Clin Endocrinol Metab 2022 Sep 28;107(10):2777-2783. doi: 10.1210/clinem/dgac433. PMID: 35896139Free PMC Article
Boyce AM, Gafni RI, Ferreira CR
Curr Osteoporos Rep 2020 Jun;18(3):232-241. doi: 10.1007/s11914-020-00577-4. PMID: 32172442Free PMC Article

Recent clinical studies

Etiology

Kato H, Braddock DT, Ito N
Curr Osteoporos Rep 2023 Oct;21(5):552-566. Epub 2023 Aug 2 doi: 10.1007/s11914-023-00814-6. PMID: 37530996Free PMC Article
Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F
J Bone Miner Res 2021 Nov;36(11):2193-2202. Epub 2021 Aug 16 doi: 10.1002/jbmr.4418. PMID: 34355424Free PMC Article
Tavana N, Thilakavathy K, Kennerson ML, Ting TH
Endokrynol Pol 2021;72(4):366-394. Epub 2021 Jul 22 doi: 10.5603/EP.a2021.0062. PMID: 34292571
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Aktuglu-Zeybek AC, Kiykim E, Cansever MS
Adv Exp Med Biol 2017;959:157-172. doi: 10.1007/978-3-319-55780-9_15. PMID: 28755194

Diagnosis

Cherian KE, Paul TV
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101844. Epub 2023 Nov 28 doi: 10.1016/j.beem.2023.101844. PMID: 38044258
Kato H, Braddock DT, Ito N
Curr Osteoporos Rep 2023 Oct;21(5):552-566. Epub 2023 Aug 2 doi: 10.1007/s11914-023-00814-6. PMID: 37530996Free PMC Article
Tavana N, Thilakavathy K, Kennerson ML, Ting TH
Endokrynol Pol 2021;72(4):366-394. Epub 2021 Jul 22 doi: 10.5603/EP.a2021.0062. PMID: 34292571
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197

Therapy

Kritmetapak K, Kumar R
Endocr Pract 2023 Jan;29(1):69-79. Epub 2022 Oct 7 doi: 10.1016/j.eprac.2022.09.007. PMID: 36210014
Bai X, Levental M, Karaplis AC
J Clin Endocrinol Metab 2022 Sep 28;107(10):2777-2783. doi: 10.1210/clinem/dgac433. PMID: 35896139Free PMC Article
Athonvarangkul D, Insogna KL
Calcif Tissue Int 2021 Jan;108(1):143-157. Epub 2020 Jun 5 doi: 10.1007/s00223-020-00705-3. PMID: 32504139
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197

Prognosis

Kato H, Braddock DT, Ito N
Curr Osteoporos Rep 2023 Oct;21(5):552-566. Epub 2023 Aug 2 doi: 10.1007/s11914-023-00814-6. PMID: 37530996Free PMC Article
Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F
J Bone Miner Res 2021 Nov;36(11):2193-2202. Epub 2021 Aug 16 doi: 10.1002/jbmr.4418. PMID: 34355424Free PMC Article
Aktuglu-Zeybek AC, Kiykim E, Cansever MS
Adv Exp Med Biol 2017;959:157-172. doi: 10.1007/978-3-319-55780-9_15. PMID: 28755194
Nakamura K, Matsumoto S, Mitsubuchi H, Endo F
Pediatr Int 2015;57(1):37-40. doi: 10.1111/ped.12550. PMID: 25443793
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197

Clinical prediction guides

Wang L, Kulaixi G, Zaiyinati J, Aibai G, Du D, Guo Y
BMC Pediatr 2024 Feb 14;24(1):121. doi: 10.1186/s12887-024-04589-2. PMID: 38355430Free PMC Article
Ni X, Li X, Zhang Q, Liu C, Gong Y, Wang O, Li M, Xing X, Jiang Y, Xia W
Calcif Tissue Int 2020 Dec;107(6):636-648. Epub 2020 Sep 12 doi: 10.1007/s00223-020-00755-7. PMID: 32920683
Mameli C, Zichichi G, Mahmood N, Elalaoui SC, Mirza A, Dharmaraj P, Burrone M, Cattaneo E, Sheth J, Gandhi A, Kochar GS, Alkuraya FS, Kabra M, Mercurio G, Zuccotti G
Orphanet J Rare Dis 2020 Apr 16;15(1):93. doi: 10.1186/s13023-020-01373-0. PMID: 32299476Free PMC Article
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Feng JQ, Clinkenbeard EL, Yuan B, White KE, Drezner MK
Bone 2013 Jun;54(2):213-21. Epub 2013 Feb 9 doi: 10.1016/j.bone.2013.01.046. PMID: 23403405Free PMC Article

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