Results 61 to 70 of about 1,505 (162)

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets.

, 1976
A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp), has been identified. The Hyp gene is located on the X-chromosome and maps at the distal end.
Eicher, E M, Scriver, C R, Southard, J L, Glorieux, F H   +3 more
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A case report of X-Linked Hypophosphatemic Rickets (XLHR) with a novel mutation in the PHEX gene

, 2019
Introduction and Aim X-linked hypophosphatemic rickets, inherited in a dominant manner, is the most commonform of familial hypophosphatemic rickets. Clinical manifestations of XLHR can vary but most patients willpresent with limb deformity, primarily ...
Yücel, Hilal, Giray Bozkaya, Özlem, Abacı, Ayhan   +2 more
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Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance.

, 1995
PURPOSE: To evaluate for an association between familial hypophosphatemic rickets (FHR) and Chiari I malformation (CM1). MATERIALS AND METHODS: Sixteen patients with FHR underwent magnetic resonance (MR) imaging of the cervicomedullary junction.
Quets, J P, Caldemeyer, K S, Wappner, R S, Moran, C C, Smith, R R, Boaz, J C   +5 more
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Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

, 2014
Hypophosphatemic rickets (HR) comprises a rare group of inherited diseases. Very recently, mutations in the dentin matrix protein 1 (DMP1) gene were identified in patients with an extremely rare autosomal recessive form of HR (ARHR).
Chouery, Eliane, Sobacchi, Cristina, Santoni, Federico, Guipponi, Michel, Hamamy, Hanan, Antonarakis, Stylianos, Mehawej, Cybel, Mégarbané, André, Makrythanasis, Periklis, Gannagé-Yared, Marie-Hélène   +9 more
core   +1 more source

Familial Hypophosphatemic Rickets: A Case Report and Review of the Literature

Bangabandhu Sheikh Mujib Medical College Journal
Among 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, Mst Naznin Sarker, Gias Uddin Ahmed, Abu Faisal Md Pervez   +3 more
openaire   +1 more source

Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation

Purpose: Rickets is a rare bone disorder due to altered calcium, vitamin D, and phosphorus metabolism, caused by nutritional deficiencies or, in 13% of cases, genetic origin. Few data are available on an Italian cohort of rickets.
Chimenz, R., Carbone, V., Bonifazi Meffe, L., Monti, L., Columbu, C., Lampis, A., di Filippo, L., Vinci, G., Guarnieri, V., Gori, G., Pugliese, F., Palumbo, O., Concolino, D., Sestito, S., Naciu, AM, Eller-Vainicher, C., Fischetto, R., Pracella, R., Salcuni, AS, Giannotta, AF, Rutigliano, I., Castori, M., Tabacco, G., Palermo, A., Arena, A., Scillitani, A., Sacco, M., Giustina, A.   +27 more
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성염색체 연관 저인산혈증성 구루병 환자의 증례 보고

, 2009
XLH (X-linked hypophosphatemic rickets) is a form of rickets which is resistant to the usual dose of vitamin D and inherited in a X-linked dominant manner. It is also known as vitamin D-resistant rickets or familial hypophosphatemic rickets.
장기택, 한세현, 이수진, 김정욱, 김종철, 김영재, 이상훈   +6 more
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X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case. [PDF]

Acta Neurochir (Wien)
Czarnetzki C, Mollica C, Buri J, Egervari K, Schaller K, Molliqaj G, Trombetti A, Nouri A, Tessitore E.   +8 more
europepmc   +1 more source

Autoimmune osteomalacia: a novel FGF23-related hypophosphatemic osteomalacia. [PDF]

J Bone Miner Metab
Hoshino Y, Ito N.
europepmc   +1 more source

Successful treatment of genetically hypophosphatemic mice by 1 alpha-hydroxyvitamin D3 but not 1,25-dihydroxyvitamin D3.

, 1980
The X-linked hypophosphatemia (Hyp) mutation in the mouse, a model for X-linked familial hypophosphatemic rickets in man, is characterized by defective phosphate transport.
Wilson, M C, Beamer, W G, DeLuca, H F
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