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
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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
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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.
Riad Lutfi
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3D-printed model combined with the Ilizarov technique in the treatment of genu varum in children with hypophosphatemic rickets [PDF]
Journal of Orthopaedic Surgery and ResearchIntroduction Genu varum in children with hypophosphatemic rickets are complex and always occur on multiple planes, which are difficult to correct. This present study is aimed to retrospectively explore the feasibility and efficacy of 3D-printed model ...
Shu Chen, Bin Gao, Qiang Shi
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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
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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.
Melissa Almeida Souza +3 more
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A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets [PDF]
Case Reports in Genetics, 2015 X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with
Tetsuya Kawahara +4 more
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A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report. [PDF]
Clin Case RepABSTRACT A 7.5‐year‐old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1.
Siddique MW +5 more
europepmc +2 more sources
Hypophosphatemic rickets: A case of recurrent pathological fractures
Indian Journal of Endocrinology and Metabolism, 2012 Introduction: Renal phosphate-wasting disorders are the most common form of hereditary rickets and osteomalacia in western countries, but are rarely reported in India. Therefore, we report here a case of hypophosphatemic rickets.
Arjun Baidya +3 more
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Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets. [PDF]
Adv Sci (Weinh)The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Wu H +20 more
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