Results 11 to 20 of about 4,812 (192)
Dental abnormalities and oral health in patients with Hypophosphatemic rickets [PDF]
Clinics, 2010 INTRODUCTION: Hypophosphatemic rickets represents a group of heritable renal disorders of phosphate characterized by hypophosphatemia, normal or low serum 1,25 (OH)2 vitamin D and calcium levels.
Luiz Alberto Valente Soares Junior +2 more
exaly +4 more sources
Hypophosphatemic Rickets in Siblings: A Rare Case Report [PDF]
Case Reports in Dentistry, 2016 Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate ...
Gummadapu Sarat +5 more
doaj +2 more sources
Pediatric Clinics of North America, 2019 Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis.
Martin, Bitzan, Paul R, Goodyer
core +6 more sources
Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome [PDF]
Case Reports in Pathology, 2011 Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular ...
Mahua Roy +3 more
doaj +2 more sources
A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon +5 more
doaj +2 more sources
Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets [PDF]
The Scientific World Journal, 2005 This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS ...
Mauro M.S. Borghi +2 more
doaj +3 more sources
Hypophosphatemic rickets associated with giant hairy nevus
Indian Journal of Endocrinology and Metabolism, 2013 The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature and skin.
Sameer Aggarwal +3 more
doaj +2 more sources
Clinical Case Reports (discontinued), 2017 Key Clinical Message Rickets is not a disease of the past. We described a toddler who developed hypophosphatemic rickets associated with the use of elemental formula.
Kamal Abulebda +2 more
exaly +2 more sources
A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets [PDF]
Endocrinology and Metabolism, 2014 Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less ...
Yea Eun Kang +6 more
doaj +2 more sources
HYPOPHOSPHATEMIC RICKETS: CASE REPORT.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo, 2018 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.Description of the metabolic profile, creatinine clearance, nutritional status, weight and body structure of a patient who presented the ...
Maia, Marta Liliane de Almeida +5 more
core +4 more sources