Results 71 to 80 of about 190,229 (170)
HYPOPHOSPHATEMIC RICKETS: CASE REPORT
, 2018 Objective: Early diagnosis and immediate treatment of hypophosphatemic rickets is of utmost importance as it may prevent subsequent sequelae. This report aims at warning pediatricians to consider the presence of the disease.
Maria Cristina de Andrade (5053805) +5 more
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Familial Hypophosphatemic Rickets: A Case Report and Review of the Literature
Bangabandhu Sheikh Mujib Medical College JournalAmong the genetic disorders causing rickets because of hypophosphatemia, X- X-linked dominant hypophosphatemic rickets (XLH) is the most common, with a prevalence of 1/20,000. The defective gene is on the X chromosome, but female carriers are affected, so it is an X-linked dominant disorder. XLH associated with short stature during childhood are mostly
Fouzia Zaman +3 more
openaire +1 more source
Key Clinical Message This case report describes the clinical course of a juvenile female with FGF23‐related hypophosphatemic rickets preceding the onset of SLE. Our study demonstrates the possibility of hypophosphatemic rickets as an early symptom of SLE.
Yoshiaki Ohtsu +6 more
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Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets
Hypophosphatemic rickets, which is often hereditary, is still under- or misdiagnosed in both children and adults, denying these individuals access to optimal management and genetic counseling.
Asma Deeb +4 more
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Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study.
, 1995 Familial or X-linked hypophosphatemic rickets (XLHR) is the most common type of rickets in developed countries today. While the dental manifestations of rickets are well reported, there is little information regarding its relationship to dental ...
Seow W.K., Holm I.A., Needleman H.L.
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Hypophosphatemic Rickets: A New Mutation
, 2018 Introduction: Phosphopenic rickets is characterized by hypophosphatemia with hyperphosphaturia, normal calcemia and normal or mildly elevated PTH. This pathology may be caused by mutations in PHEX gene (phosphate regulating endopeptidase homolog X-linked)
Sousa, H +6 more
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, 2014 We report a case of papilledema and early visual field loss from craniosynostosis related to hypophosphatemic rickets in a six-year-old girl. Hypophosphatemic rickets is caused by decreased reabsorption of inorganic phosphates in the renal tubules ...
Dara M. Bier; Sara A. Simpson; Divya Khurana; Svetlana Ten; Marc J. Dinkin
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When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia. [PDF]
Curr Osteoporos RepFerreira CR, Imel EA.
europepmc +1 more source
Successful Transition in Rare Metabolic Bone Diseases: One-Year Outcomes of a Multidisciplinary Pediatric-Adult Program. [PDF]
Medicina (Kaunas)Yaşar M +10 more
europepmc +1 more source
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.
, 1993 Human X-linked dominant hypophosphatemic rickets (HPDR I) is characterized by hypophosphatemia, hyperphosphaturia, abnormal vitamin D metabolism, and rickets/osteomalacia.
DEVOTO, MARCELLA +5 more
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