Etiology
Cappellani D,
Brancatella A,
Morganti R,
Borsari S,
Baldinotti F,
Caligo MA,
Kaufmann M,
Jones G,
Marcocci C,
Cetani F
Eur J Endocrinol
2021 Dec 10;186(2):137-149.
doi: 10.1530/EJE-21-0713.
PMID: 34735369
Lenherr-Taube N,
Furman M,
Assor E,
Elia Y,
Collins C,
Thummel K,
Levine MA,
Sochett E
J Clin Endocrinol Metab
2021 Sep 27;106(10):2938-2948.
doi: 10.1210/clinem/dgab432.
PMID: 34139759Free PMC Article
De Paolis E,
Scaglione GL,
De Bonis M,
Minucci A,
Capoluongo E
Clin Chem Lab Med
2019 Oct 25;57(11):1650-1667.
doi: 10.1515/cclm-2018-1208.
PMID: 31188746
Çullas İlarslan NE,
Şıklar Z,
Berberoğlu M
J Clin Res Pediatr Endocrinol
2017 Dec 15;9(4):315-322.
Epub 2017 Apr 26
doi: 10.4274/jcrpe.4247.
PMID: 28443817Free PMC Article
Schlingmann KP,
Kaufmann M,
Weber S,
Irwin A,
Goos C,
John U,
Misselwitz J,
Klaus G,
Kuwertz-Bröking E,
Fehrenbach H,
Wingen AM,
Güran T,
Hoenderop JG,
Bindels RJ,
Prosser DE,
Jones G,
Konrad M
N Engl J Med
2011 Aug 4;365(5):410-21.
Epub 2011 Jun 15
doi: 10.1056/NEJMoa1103864.
PMID: 21675912
Diagnosis
Zheng Z,
Wu Y,
Wu H,
Jin J,
Luo Y,
Cao S,
Shan X
J Pediatr Endocrinol Metab
2023 Nov 27;36(11):999-1011.
Epub 2023 Sep 29
doi: 10.1515/jpem-2023-0147.
PMID: 37768904
De Paolis E,
Scaglione GL,
De Bonis M,
Minucci A,
Capoluongo E
Clin Chem Lab Med
2019 Oct 25;57(11):1650-1667.
doi: 10.1515/cclm-2018-1208.
PMID: 31188746
Jones G,
Kottler ML,
Schlingmann KP
Endocrinol Metab Clin North Am
2017 Dec;46(4):1095-1117.
Epub 2017 Oct 5
doi: 10.1016/j.ecl.2017.07.011.
PMID: 29080636
Stokes VJ,
Nielsen MF,
Hannan FM,
Thakker RV
J Bone Miner Res
2017 Nov;32(11):2157-2170.
Epub 2017 Nov 2
doi: 10.1002/jbmr.3296.
PMID: 28914984Free PMC Article
Tasic V,
Gucev Z
Pediatr Endocrinol Rev
2015 Sep;13(1):468-76.
PMID: 26540764
Therapy
Zheng Z,
Wu Y,
Wu H,
Jin J,
Luo Y,
Cao S,
Shan X
J Pediatr Endocrinol Metab
2023 Nov 27;36(11):999-1011.
Epub 2023 Sep 29
doi: 10.1515/jpem-2023-0147.
PMID: 37768904
Lenherr-Taube N,
Furman M,
Assor E,
Thummel K,
Levine MA,
Sochett E
J Steroid Biochem Mol Biol
2023 Jul;231:106301.
Epub 2023 Mar 27
doi: 10.1016/j.jsbmb.2023.106301.
PMID: 36990163Free PMC Article
Lenherr-Taube N,
Furman M,
Assor E,
Elia Y,
Collins C,
Thummel K,
Levine MA,
Sochett E
J Clin Endocrinol Metab
2021 Sep 27;106(10):2938-2948.
doi: 10.1210/clinem/dgab432.
PMID: 34139759Free PMC Article
Christakos S,
Dhawan P,
Verstuyf A,
Verlinden L,
Carmeliet G
Physiol Rev
2016 Jan;96(1):365-408.
doi: 10.1152/physrev.00014.2015.
PMID: 26681795Free PMC Article
Schlingmann KP,
Kaufmann M,
Weber S,
Irwin A,
Goos C,
John U,
Misselwitz J,
Klaus G,
Kuwertz-Bröking E,
Fehrenbach H,
Wingen AM,
Güran T,
Hoenderop JG,
Bindels RJ,
Prosser DE,
Jones G,
Konrad M
N Engl J Med
2011 Aug 4;365(5):410-21.
Epub 2011 Jun 15
doi: 10.1056/NEJMoa1103864.
PMID: 21675912
Prognosis
Lefèvre CR,
Peltier L,
Lokchine A,
Ryckewaert A,
Moreau C
Ann Biol Clin (Paris)
2022 Sep 1;80(5):460-463.
doi: 10.1684/abc.2022.1747.
PMID: 36453734
Çullas İlarslan NE,
Şıklar Z,
Berberoğlu M
J Clin Res Pediatr Endocrinol
2017 Dec 15;9(4):315-322.
Epub 2017 Apr 26
doi: 10.4274/jcrpe.4247.
PMID: 28443817Free PMC Article
Cools M,
Goemaere S,
Baetens D,
Raes A,
Desloovere A,
Kaufman JM,
De Schepper J,
Jans I,
Vanderschueren D,
Billen J,
De Baere E,
Fiers T,
Bouillon R
Bone
2015 Dec;81:89-96.
Epub 2015 Jun 25
doi: 10.1016/j.bone.2015.06.018.
PMID: 26117226
Kaufmann M,
Gallagher JC,
Peacock M,
Schlingmann KP,
Konrad M,
DeLuca HF,
Sigueiro R,
Lopez B,
Mourino A,
Maestro M,
St-Arnaud R,
Finkelstein JS,
Cooper DP,
Jones G
J Clin Endocrinol Metab
2014 Jul;99(7):2567-74.
Epub 2014 Mar 26
doi: 10.1210/jc.2013-4388.
PMID: 24670084Free PMC Article
Koltin D,
Rachmiel M,
Wong BY,
Cole DE,
Harvey E,
Sochett E
J Pediatr
2011 Aug;159(2):215-21.e1.
Epub 2011 Mar 17
doi: 10.1016/j.jpeds.2011.01.035.
PMID: 21414629
Clinical prediction guides
Ball N,
Duncan S,
Zhang Y,
Payet R,
Piec I,
Whittle E,
Tang JCY,
Schoenmakers I,
Lopez B,
Chipchase A,
Kumar A,
Perry L,
Maxwell H,
Ding Y,
Fraser WD,
Green D
J Bone Miner Res
2023 Mar;38(3):414-426.
Epub 2023 Jan 23
doi: 10.1002/jbmr.4769.
PMID: 36625425
Gurevich E,
Borovitz Y,
Levi S,
Perlman S,
Landau D
Pediatr Nephrol
2023 Apr;38(4):1067-1073.
Epub 2022 Sep 26
doi: 10.1007/s00467-022-05740-w.
PMID: 36156733
Lenherr-Taube N,
Furman M,
Assor E,
Elia Y,
Collins C,
Thummel K,
Levine MA,
Sochett E
J Clin Endocrinol Metab
2021 Sep 27;106(10):2938-2948.
doi: 10.1210/clinem/dgab432.
PMID: 34139759Free PMC Article
Christakos S,
Dhawan P,
Verstuyf A,
Verlinden L,
Carmeliet G
Physiol Rev
2016 Jan;96(1):365-408.
doi: 10.1152/physrev.00014.2015.
PMID: 26681795Free PMC Article
Donnai D,
Karmiloff-Smith A
Am J Med Genet
2000 Summer;97(2):164-71.
doi: 10.1002/1096-8628(200022)97:2<164::aid-ajmg8>3.0.co;2-f.
PMID: 11180224