Research & Literature

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

Journal of pediatric endocrinology & metabolism : JPEM 2015; (28(7-8)):967-70.

Iron Supplementation Associated With Loss of Phenotype in Autosomal Dominant Hypophosphatemic Rickets.

Kapelari K, Köhle J, Kotzot D, Högler W

The Journal of clinical endocrinology and metabolism 2015; (100(9)):3388-92 doi:10.1210/jc.2015-2391.

Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.

Rafaelsen S, Johansson S, Ræder H, Bjerknes R

European journal of endocrinology 2016; (174(2)):125-36 doi:10.1530/EJE-15-0515.

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.

Ichikawa S, Gerard-O'Riley RL, Acton D, et al.

Endocrinology 2017; (158(3)):470-476 doi:10.1210/en.2016-1642.

Tumor-induced osteomalacia.

Florenzano P, Gafni RI, Collins MT

Bone reports 2017; (7()):90-97 doi:10.1016/j.bonr.2017.09.002.

Burosumab: First Global Approval.

Lamb YN

Drugs 2018; (78(6)):707-714 doi:10.1007/s40265-018-0905-7.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Haffner D, Emma F, Eastwood DM, et al.

Nature reviews. Nephrology 2019; (15(7)):435-455 doi:10.1038/s41581-019-0152-5.

FGF23 and Associated Disorders of Phosphate Wasting.

Gohil A, Imel EA

Pediatric endocrinology reviews : PER 2019; (17(1)):17-34 doi:10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate.

Iron replacement ameliorates hypophosphatemia in autosomal dominant hypophosphatemic rickets: A review of the role of iron.

Menon LP, Weinstein RS

Bone 2020; (131()):115137 doi:10.1016/j.bone.2019.115137.

Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives.

Raimann A, Mindler GT, Kocijan R, et al.

Wiener medizinische Wochenschrift (1946) 2020; (170(5-6)):116-123 doi:10.1007/s10354-019-00732-2.

Congenital Conditions of Hypophosphatemia Expressed in Adults.

Marcucci G, Brandi ML

Calcified tissue international 2021; (108(1)):91-103 doi:10.1007/s00223-020-00695-2.

New Therapies for Hypophosphatemia-Related to FGF23 Excess.

Athonvarangkul D, Insogna KL

Calcified tissue international 2021; (108(1)):143-157 doi:10.1007/s00223-020-00705-3.

Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature.

Ni X, Li X, Zhang Q, et al.

Calcified tissue international 2020; (107(6)):636-648 doi:10.1007/s00223-020-00755-7.

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).

Ferreira CR, Hackbarth ME, Ziegler SG, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(2)):396-407 doi:10.1038/s41436-020-00983-0.

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, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021; (36(5)):942-955 doi:10.1002/jbmr.4254.

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.

Laurent MR, De Schepper J, Trouet D, et al.

Frontiers in endocrinology 2021; (12()):641543 doi:10.3389/fendo.2021.641543.

INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.

Cheng Z, O'Brien K, Howe J, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021; (36(8)):1594-1604 doi:10.1002/jbmr.4315.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.

Höppner J, Kornak U, Sinningen K, et al.

Bone 2021; (153()):116111 doi:10.1016/j.bone.2021.116111.

Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23.

Ito N, Kubota T, Kitanaka S, et al.

Journal of bone and mineral metabolism 2021; (39(6)):1066-1075 doi:10.1007/s00774-021-01250-1.

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.

Ferreira CR, Kintzinger K, Hackbarth ME, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021; (36(11)):2193-2202 doi:10.1002/jbmr.4418.

X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.

Baroncelli GI, Mora S

Frontiers in endocrinology 2021; (12()):688309 doi:10.3389/fendo.2021.688309.

Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.

Linglart A, Imel EA, Whyte MP, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(3)):813-824 doi:10.1210/clinem/dgab729.

Rickets guidance: part II-management.

Haffner D, Leifheit-Nestler M, Grund A, Schnabel D

Pediatric nephrology (Berlin, Germany) 2022; (37(10)):2289-2302 doi:10.1007/s00467-022-05505-5.

Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study.

Mindler GT, Stauffer A, Kranzl A, et al.

Frontiers in endocrinology 2022; (13()):866170 doi:10.3389/fendo.2022.866170.

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Ralph D, Levine MA, Richard G, et al.

Human mutation 2022; (43(9)):1183-1200 doi:10.1002/humu.24391.

Genetic and clinical profile of patients with hypophosphatemic rickets.

Marik B, Bagga A, Sinha A, et al.

European journal of medical genetics 2022; (65(8)):104540 doi:10.1016/j.ejmg.2022.104540.

Catalysis-Independent ENPP1 Protein Signaling Regulates Mammalian Bone Mass.

Zimmerman K, Liu X, von Kroge S, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022; (37(9)):1733-1749 doi:10.1002/jbmr.4640.

Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1).

Bai X, Levental M, Karaplis AC

The Journal of clinical endocrinology and metabolism 2022; (107(10)):2777-2783 doi:10.1210/clinem/dgac433.

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene.

Choe Y, Shin CH, Lee YA, et al.

Frontiers in endocrinology 2022; (13()):911672 doi:10.3389/fendo.2022.911672.

Approach to Hypophosphatemic Rickets.

Ackah SA, Imel EA

The Journal of clinical endocrinology and metabolism 2022; (108(1)):209-220 doi:10.1210/clinem/dgac488.

Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia.

Hartley IR, Gafni RI, Roszko KL, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022; (37(11)):2174-2185 doi:10.1002/jbmr.4702.

Phosphatonins: From Discovery to Therapeutics.

Kritmetapak K, Kumar R

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2023; (29(1)):69-79 doi:10.1016/j.eprac.2022.09.007.

Osteocytes and the pathogenesis of hypophosphatemic rickets.

Yamazaki M, Michigami T

Frontiers in endocrinology 2022; (13()):1005189 doi:10.3389/fendo.2022.1005189.

First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.

Bastida G, Ramírez F, Exeni G, et al.

Archivos argentinos de pediatria 2023; (121(2)):e202202682 doi:10.5546/aap.2022-02682.eng.

The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.

Ni X, Gong Y, Jiang Y, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(4)):791-801 doi:10.1210/clinem/dgac640.

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.

Chunn LM, Bissonnette J, Heinrich SV, et al.

Orphanet journal of rare diseases 2022; (17(1)):421 doi:10.1186/s13023-022-02577-2.

Changes of the lower limb deformity in children with FGF23-related hypophosphatemic rickets treated with Burosumab: a single-center prospective study.

Sawamura K, Hamajima T, Izawa M, et al.

Journal of pediatric orthopedics. Part B 2024; (33(1)):90-96 doi:10.1097/BPB.0000000000001054.

Tubular phosphate transport: a comparison between different methods of urine sample collection in FGF23-dependent hypophosphatemic syndromes.

Arcidiacono GP, Camozzi V, Zaninotto M, et al.

Clinical chemistry and laboratory medicine 2024; (62(6)):1126-1132 doi:10.1515/cclm-2023-1292.

Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.

Dursun F, Turan İ, Bitkin EÇ, et al.

Clinical endocrinology 2024; (101(5)):475-484 doi:10.1111/cen.15028.

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl

Lin HY, Lee NC, Melody Tsai MJ, et al.

Journal of clinical research in pediatric endocrinology 2026; (18(Suppl 1)):6-11 doi:10.4274/jcrpe.galenos.2024.2024-3-8.

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).

Edouard T, Linglart A

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024; (31(4S1)):4S27-4S32 doi:10.1016/S0929-693X(24)00154-4.

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.

Chen M, Sun D, Yee SP, et al.

BMC molecular and cell biology 2025; (26(1)):1 doi:10.1186/s12860-024-00526-4.

Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.

Gokul PR, Jarvis C, Kassab G, et al.

Calcified tissue international 2025; (116(1)):20 doi:10.1007/s00223-024-01324-y.

FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms.

Karlekar MP, Dodamani MH, Lila A, et al.

Indian pediatrics 2025; (62(3)):211-216 doi:10.1007/s13312-025-00024-6.

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.

Ferreira CR, Hackbarth ME, Nitschke Y, et al.

JBMR plus 2025; (9(5)):ziaf019 doi:10.1093/jbmrpl/ziaf019.

Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight.

Ribeiro S, Moreno T, Varela A, et al.

Endocrinology, diabetes & metabolism case reports 2025; (2025(3)).

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe?

Munteanu M, Rutsch F, Nitschke Y, et al.

Bone 2026; (202()):117698 doi:10.1016/j.bone.2025.117698.

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Baker A, Al Tarrass M, Chatziantoniou C, Kozyraki R

Matrix biology : journal of the International Society for Matrix Biology 2025; (142()):58-85 doi:10.1016/j.matbio.2025.11.002.

Phenotypic diversity in autosomal recessive hypophosphatemic rickets type 2.

Al Qanoobi M, Al Badi M, Al Sinani A, Mughal MZ

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2026; (41(7)):705-709 doi:10.1093/jbmr/zjag029.

Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.

Bruno I, De Sanctis L, Foligno NE, et al.

Journal of endocrinological investigation 2026; doi:10.1007/s40618-026-02843-1.

Expanding the Autosomal Recessive Hypophosphatemic Rickets Type I Carrier Phenotype and Adult Treatment with Burosumab.

Sawalha NA, Sampaio ML, Liu D, et al.

Calcified tissue international 2026; (117(1)).

Oral assessment of patients with X-linked hypophosphatemic rickets.

Buzato J, De Castro Santos VL, Botelho Pires de Campos MC, et al.

Journal of the American Dental Association (1939) 2026; doi:10.1016/j.adaj.2026.03.002.

Unveiling the biochemical signature of tumor-induced osteomalacia: implications for distinguishing it from primary osteoporosis.

Chai Y, Wang X, Li S, et al.

Frontiers in endocrinology 2026; (17()):1899331 doi:10.3389/fendo.2026.1899331.

Fibroblast growth factor 23 (FGF23): From synthesis to cleavage.

Yuan S, Wang Q, Meng C, et al.

Molecular and cellular endocrinology 2026; (623()):112909 doi:10.1016/j.mce.2026.112909.

Chronic hypophosphatemia leading to the diagnosis of autosomal recessive hypophosphatemic rickets type 2 caused by a novel pathogenic variant in ENPP1.

Tsai P, Maalouf NM

Bone 2026; (213()):118086 doi:10.1016/j.bone.2026.118086.