Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
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DOI: 10.1002/humu.24391
Abstract: ENPP1 encodes ENPP1, an ectonucleotidase catalyzing hydrolysis of ATP to AMP and inorganic pyrophosphate (PPi), and an endogenous plasma protein physiologically preventing ectopic calcification of connective tissues. Mutations in ENPP1 have been reported in association… read more here.
Keywords: mutation update; calcification; enpp1 gene; mutation ... See more keywords
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies
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DOI: 10.1002/jbmr.4418
Abstract: Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the… read more here.
Keywords: ectopic calcification; abcc6 deficiencies; calcification; hypophosphatemic rickets ... See more keywords
Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early‐Onset Osteoporosis
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DOI: 10.1002/jbmr.4550
Abstract: Homozygous ENPP1 mutations are associated with autosomal recessive hypophosphatemic rickets type 2 (ARHR2), severe ossification of the spinal ligaments, and generalized arterial calcification of infancy type 1. There are a limited number of reports on… read more here.
Keywords: enpp1; onset osteoporosis; early onset; case ... See more keywords
Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH)
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DOI: 10.1002/jbmr.4630
Abstract: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23‐independent disease caused by biallelic variants in the solute carrier family 34‐member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis… read more here.
Keywords: hypercalciuria hhrh; slc34a3 variants; hereditary hypophosphatemic; rickets hypercalciuria ... See more keywords
X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro
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DOI: 10.1002/mgg3.1941
Abstract: X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing. read more here.
Keywords: new variants; rickets description; seven new; description seven ... See more keywords
An 8-year-old with genu valgum: Answers
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DOI: 10.1007/s00467-018-4090-4
Abstract: X-ray findings of knee (Fig. 1a, b) and wrist (Fig. 1c) are suggestive of rickets. His laboratory findings showed normal calcium, but low phosphorous, which is suggestive of hypophosphatemic rickets. Differential diagnosis of hypophosphatemic rickets… read more here.
Keywords: fgf23; hypophosphatemic rickets; valgum answers; genu valgum ... See more keywords
Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Bone and Mineral Metabolism"
DOI: 10.1007/s00774-021-01250-1
Abstract: Measurement of fibroblast growth factor 23 (FGF23) has been reported to be clinically useful for the differential diagnosis of chronic hypophosphatemia. However, assays for research use only are available in Japan. Thus, the objective of… read more here.
Keywords: fgf23; chemiluminescent enzyme; fgf23 related; hypophosphatemic rickets ... See more keywords
Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study
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DOI: 10.1007/s40618-022-01768-9
Abstract: Patients with hereditary hypophosphatemic rickets are short and disproportionate and very little information is available on segmental growth, but the body disproportion at adulthood leads us to think that the growth velocity of legs is… read more here.
Keywords: body; hypophosphatemic rickets; compliance; height ... See more keywords
Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) due to ENPP1-deficiency.
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DOI: 10.1016/j.bone.2021.116111
Abstract: Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is known… read more here.
Keywords: type arhr2; recessive hypophosphatemic; hypophosphatemic rickets; autosomal recessive ... See more keywords
The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
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DOI: 10.1097/cm9.0000000000000454
Abstract: Supplemental Digital Content is available in the text read more here.
Keywords: bone density; coexistence hypophosphatemic; rickets increased; hypophosphatemic rickets ... See more keywords
Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets
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DOI: 10.1097/md.0000000000018425
Abstract: Abstract Rationale: Hypophosphatemic rickets (HR) is a rare hereditary disease characterized by hypophosphatemia, defects in bone mineralization, and rickets, and surgical intervention is warranted for the patient of severe skeletal deformity. Patient concerns: Here we… read more here.
Keywords: patient; translational osteotomy; hypophosphatemic rickets; deformity ... See more keywords