222 related articles for article (PubMed ID: 34355424)
1. 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]
2. 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]
3. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y; Baujat G; Botschen U; Wittkampf T; du Moulin M; Stella J; Le Merrer M; Guest G; Lambot K; Tazarourte-Pinturier MF; Chassaing N; Roche O; Feenstra I; Loechner K; Deshpande C; Garber SJ; Chikarmane R; Steinmann B; Shahinyan T; Martorell L; Davies J; Smith WE; Kahler SG; McCulloch M; Wraige E; Loidi L; Höhne W; Martin L; Hadj-Rabia S; Terkeltaub R; Rutsch F
Am J Hum Genet; 2012 Jan; 90(1):25-39. PubMed ID: 22209248
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.
Boyce AM; Gafni RI; Ferreira CR
Curr Osteoporos Rep; 2020 Jun; 18(3):232-241. PubMed ID: 32172442
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [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]
13. 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]
14. 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]
15. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Ralph D; Nitschke Y; Levine MA; Caffet M; Wurst T; Saeidian AH; Youssefian L; Vahidnezhad H; Terry SF; Rutsch F; Uitto J; Li Q
PLoS Genet; 2022 Apr; 18(4):e1010192. PubMed ID: 35482848
[TBL] [Abstract][Full Text] [Related]
16. Catalysis-Independent ENPP1 Protein Signaling Regulates Mammalian Bone Mass.
Zimmerman K; Liu X; von Kroge S; Stabach P; Lester ER; Chu EY; Srivastava S; Somerman MJ; Tommasini SM; Busse B; Schinke T; Carpenter TO; Oheim R; Braddock DT
J Bone Miner Res; 2022 Sep; 37(9):1733-1749. PubMed ID: 35773783
[TBL] [Abstract][Full Text] [Related]
17. Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective.
O'Brien C; Khursigara G; Huertas P; Leiro B; Molloy L; Nester C
PLoS One; 2022; 17(7):e0270632. PubMed ID: 35895733
[TBL] [Abstract][Full Text] [Related]
18. Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.
Ferreira CR; Ansh AJ; Nester C; O'Brien C; Stabach PR; Murtada SI; Lester ER; Khursigara G; Molloy L; Carpenter TO; Braddock DT
J Bone Miner Res; 2022 Mar; 37(3):494-504. PubMed ID: 34882836
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Staretz-Chacham O; Shukrun R; Barel O; Pode-Shakked B; Pleniceanu O; Anikster Y; Shalva N; Ferreira CR; Ben-Haim Kadosh A; Richardson J; Mane SM; Hildebrandt F; Vivante A
Am J Med Genet A; 2019 Oct; 179(10):2112-2118. PubMed ID: 31444901
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]