Results 61 to 70 of about 190,229 (170)

Hypophosphatemic rickets: easy to diagnose, difficult to treat

, 1999
Hypophosphatemic Rickets (HR) has generated a lot of interest in recent times. There is need to recognize this disorder and differentiate it from the more common nutritional rickets because the therapy is different. It is also important to emphasize that
Tandon, Nikhil, Garg, Rajesh, Garg, Rajesh Kumar   +2 more
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Dental alterations associated with X-linked hypophosphatemic rickets

, 2015
The X-linked hypophosphatemic rickets is a rare metabolic disorder characterized by low serum phosphate levels caused by a decreased renal tubular reabsorption of inorganic phosphates.
de Andrade, CR, Vargas, PA, de Almeida, OP, Della Coletta, R, Lopes, MA, Pereira, CM   +5 more
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Dental abnormalities and oral health in patients with Hypophosphatemic rickets [PDF]

, 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.
Maria Helena Vaisbich, Marcela Alves dos Santos, Melissa Almeida Souza, Souza, Melissa Almeida, Vaisbich, Maria Helena, Santos, Marcela Alves dos, Luiz Alberto Valente Soares Junior, Soares Junior, Luiz Alberto Valente   +7 more
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Dental Problems in Hypophosphatemic Rickets, a Cross Sectional Study [PDF]

, 2013
Objective: Hypophosphatemic rickets is an uncommon metabolic bone disorder which affects all ages and both sexes. It is characterized by low concentration of serum phosphate levels, impairment of mineralization of bone matrix and teeth with variable ...
Rahmani, Parisa, Ziaee, Vahid, Ghodoosi, Sharareh, Rabbani, Ali   +3 more
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CLINICAL CASE OF FAMILIAL HYPOPHOSPHATEMIC RICKETS IN A CHILD

Neonatology, Surgery and Perinatal Medicine
X-linked hypophosphatemic rickets is an inherited disorder caused by mutations in the PHEX gene (phosphate- regulating proteinwith homology to endopeptidases on the X chromosome). Chronic hypophosphatemia leads to impaired bone mineralization, resulting ingrowth retardation, rickets, and damage to other organs and systems, including maxillofacial ...
M. Aryayev, N. Lotysh, L. Kaplina, V. Pavlova, V. Koropets, I. Golovenko   +5 more
openaire   +1 more source

Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets

, 2003
The Schimmelpenning-Feuerstein-Mims syndrome (SFM syndrome) is a rare and variable multisystem defect consisting of congenital, extensive linear nevus sebaceus and associated abnormalities in different neuroectodermal organ systems.
Happle, R., Neumann, C., Habenicht, E. M., Emmert, Steffen, Strutz, Frank M., Haenssle, Holger Andreas, Kretschmer, Lutz, Zutt, Markus   +7 more
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Familial Hypophosphatemic Rickets - A Case Report and Review of Literature

Bangladesh Journal of Child Health, 2012
DOI: http://dx.doi.org/10.3329/bjch.v34i2.10222 BJCH2010; 34(2): 73-75
Md Shafiqul Alam Chowdhury, LE Fatmi, Md Shahidul Haque   +2 more
openaire   +2 more sources

Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria [PDF]

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare fibroblast growth factor-23-independent disorder caused by biallelic variants in the SLC34A3 gene.
Luciana Pinto Valadares, Daniel Rocha de Carvalho   +1 more
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The management of siblings with familial hypophosphatemic rickets

, 1983
Two siblings (boy and girl) born to a mother with familial hypophosphatemic rickets had abnormal values of serum phosphorus and serum alkaline phosphatase at the age of six weeks. At this age therapy with 1 alpha-hydroxycholecalciferol (1 alpha OHD3) and
Megreli, C., Edelstein, S., Lapatsanis, P. D., Sbyrakis, S.   +3 more
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Hypophosphatemic rickets in children

, 2022
Hipofosfatemični rahitis je metabolička bolest kostiju koja najčešće nastaje zbog povećanog gubitka fosfata bubrezima. X-vezani dominantni hipofosfatemični rahitis je najzastupljeniji nasljedni oblik hipofosfatemičnog rahitisa, a uzrokovan je mutacijama ...
Ivanković, Katarina
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