159 related articles for article (PubMed ID: 36461014)
1. Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.
Chunn LM; Bissonnette J; Heinrich SV; Mercurio SA; Kiel MJ; Rutsch F; Ferreira CR
Orphanet J Rare Dis; 2022 Dec; 17(1):421. PubMed ID: 36461014
[TBL] [Abstract][Full Text] [Related]
2. Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
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. PubMed ID: 34355424
[TBL] [Abstract][Full Text] [Related]
3. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.
Höppner J; Kornak U; Sinningen K; Rutsch F; Oheim R; Grasemann C
Bone; 2021 Dec; 153():116111. PubMed ID: 34252603
[TBL] [Abstract][Full Text] [Related]
4. ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA; Chunn LM; Khursigara G; Nester C; Wray K; Botschen U; Kiel MJ; Rutsch F; Ferreira CR
Hum Mutat; 2022 Dec; 43(12):1673-1705. PubMed ID: 36150100
[TBL] [Abstract][Full Text] [Related]
5. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D; Levine MA; Richard G; Morrow MM; Flynn EK; Uitto J; Li Q
Hum Mutat; 2022 Sep; 43(9):1183-1200. PubMed ID: 35475527
[TBL] [Abstract][Full Text] [Related]
6. [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].
Liu ZQ; Chen XB; Song FY; Gao K; Qiu MF; Qian Y; Du M
Zhonghua Er Ke Za Zhi; 2017 Nov; 55(11):858-861. PubMed ID: 29141319
[No Abstract] [Full Text] [Related]
7. Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.
Kato H; Ansh AJ; Lester ER; Kinoshita Y; Hidaka N; Hoshino Y; Koga M; Taniguchi Y; Uchida T; Yamaguchi H; Niida Y; Nakazato M; Nangaku M; Makita N; Takamura T; Saito T; Braddock DT; Ito N
J Bone Miner Res; 2022 Jun; 37(6):1125-1135. PubMed ID: 35340077
[TBL] [Abstract][Full Text] [Related]
8. Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.
Dursun F; Turan İ; Bitkin EÇ; Bayramoğlu E; Çayır A; Erdeve ŞS; Çakır EDP; Çamtosun E; Dilek SO; Kırmızıbekmez H; Eser M; Türkyılmaz A; Karagüzel G
Clin Endocrinol (Oxf); 2024 Feb; ():. PubMed ID: 38324408
[TBL] [Abstract][Full Text] [Related]
9. Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy.
Miyai K; Ariyasu D; Numakura C; Yoneda K; Nakazato H; Hasegawa Y
Bone Rep; 2015 Dec; 3():57-60. PubMed ID: 28377967
[TBL] [Abstract][Full Text] [Related]
10. Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Oheim R; Zimmerman K; Maulding ND; Stürznickel J; von Kroge S; Kavanagh D; Stabach PR; Kornak U; Tommasini SM; Horowitz MC; Amling M; Thompson D; Schinke T; Busse B; Carpenter TO; Braddock DT
J Bone Miner Res; 2020 Mar; 35(3):528-539. PubMed ID: 31805212
[TBL] [Abstract][Full Text] [Related]
11. Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in
Choe Y; Shin CH; Lee YA; Kim MJ; Lee YJ
Front Endocrinol (Lausanne); 2022; 13():911672. PubMed ID: 35966073
[TBL] [Abstract][Full Text] [Related]
12. INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.
Cheng Z; O'Brien K; Howe J; Sullivan C; Schrier D; Lynch A; Jungles S; Sabbagh Y; Thompson D
J Bone Miner Res; 2021 Aug; 36(8):1594-1604. PubMed ID: 33900645
[TBL] [Abstract][Full Text] [Related]
13. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR; Hackbarth ME; Ziegler SG; Pan KS; Roberts MS; Rosing DR; Whelpley MS; Bryant JC; Macnamara EF; Wang S; Müller K; Hartley IR; Chew EY; Corden TE; Jacobsen CM; Holm IA; Rutsch F; Dikoglu E; Chen MY; Mughal MZ; Levine MA; Gafni RI; Gahl WA
Genet Med; 2021 Feb; 23(2):396-407. PubMed ID: 33005041
[TBL] [Abstract][Full Text] [Related]
14. Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
Steichen-Gersdorf E; Lorenz-Depiereux B; Strom TM; Shaw NJ
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):967-70. PubMed ID: 25741938
[TBL] [Abstract][Full Text] [Related]
15. Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.
Maulding ND; Kavanagh D; Zimmerman K; Coppola G; Carpenter TO; Jue NK; Braddock DT
Bone; 2021 Jan; 142():115656. PubMed ID: 32980560
[TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.
Bitkin EÇ; Aymelek HS
Turk J Pediatr; 2022; 64(3):585-591. PubMed ID: 35899574
[TBL] [Abstract][Full Text] [Related]
17. Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.
Ferreira CR; Kavanagh D; Oheim R; Zimmerman K; Stürznickel J; Li X; Stabach P; Rettig RL; Calderone L; MacKichan C; Wang A; Hutchinson HA; Nelson T; Tommasini SM; von Kroge S; Fiedler IA; Lester ER; Moeckel GW; Busse B; Schinke T; Carpenter TO; Levine MA; Horowitz MC; Braddock DT
J Bone Miner Res; 2021 May; 36(5):942-955. PubMed ID: 33465815
[TBL] [Abstract][Full Text] [Related]
18. Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
Ferreira CR; Ziegler SG; Gupta A; Groden C; Hsu KS; Gahl WA
Am J Med Genet A; 2016 May; 170A(5):1308-11. PubMed ID: 26857895
[TBL] [Abstract][Full Text] [Related]
19. ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
Ferreira CR; Carpenter TO; Braddock DT
Annu Rev Pathol; 2024 Jan; 19():507-540. PubMed ID: 37871131
[TBL] [Abstract][Full Text] [Related]
20. Case report: A rare homozygous variation in the
Lu P; Chen J; Chen M; Wang L; Xiang D; Yin J; Yang S
Front Cardiovasc Med; 2023; 10():1105381. PubMed ID: 36937905
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]