Results 31 to 40 of about 9,343 (245)
Presentation and Diagnosis of Pediatric X-Linked Hypophosphatemia
Endocrines, 2023 X-linked hypophosphatemia (XLH) is a rare type of hereditary hypophosphatemic rickets. Patients with XLH have various symptoms that lower their QOL as defined by HAQ, RAPID3, SF36-PCS, and SF36-MCS in adult patients and SF-10 and PDCOI in pediatric ...
Kento Ikegawa, Yukihiro Hasegawa
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Complications and Treatments in Adult X-Linked Hypophosphatemia
Endocrines, 2022 X-linked hypophosphatemia (XLH) is a rare inherited disorder involving elevated levels of fibroblast growth factor (FGF) 23, and is caused by loss-of-function mutations in the PHEX gene. FGF23 induces renal phosphate wasting and suppresses the activation
Yasuo Imanishi +2 more
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X-Linked Hypophosphatemic Rickets: A Pediatric Case Report [PDF]
Revista Portuguesa de Nefrologia e Hipertensão, 2022 X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets.
Isabel Rodrigues Leal Moitinho de Almeida +3 more
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X-Linked Hypophosphatemia: New Horizons
Clinical Pediatric Endocrinology, 2005 X-linked hypophosphatemia (XLH) is a hypophosphatemic rachitic disorder, which occurs in one of 20,000 live births. The disease phenotype is quite variable, and many patients do not have profound signs or symptoms including rickets. Thus, XLH is sometimes called "XLH rickets without rickets".
Marc K. Drezner
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Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. [PDF]
, 2014 Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA). Slc4a4 encodes the electrogenic sodium base transporter NBCe1 that is involved in transcellular base transport and pH regulation during amelogenesis.
Kurtz, Ira, Paine, Michael L, Wen, Xin
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Hyperparathyroidism in Patients With X-Linked Hypophosphatemia [PDF]
Journal of Bone and Mineral Research, 2020 ABSTRACT X-linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL
Lecoq, Anne‐lise +15 more
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Dental Manifestations and Oral Management of X-Linked Hypophosphatemia
Endocrines, 2022 X-linked hypophosphatemia (XLH) is the most common genetic form of rickets and osteomalacia and is characterized by growth retardation, deformities of the lower limbs, and bone and muscular pain.
Rena Okawa, Kazuhiko Nakano
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Bone Reports, 2016 X-linked hypophosphatemia (XLH) is characterized by lower extremity deformities that lead to bone and/or joint pain that result from decreased renal tubular reabsorption leading to hypophosphatemia caused by elevated levels of fibroblast growth factor 23
Mary D. Ruppe +12 more
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X-linked hypophosphatemic rickets: from diagnosis to management [PDF]
Clinical and Experimental PediatricsX-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts ...
Eujin Park, Hee Gyung Kang
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Long-term renal function and hypertension in adult survivors of childhood sarcoma [PDF]
, 2018 Aim: Little data is available on long-term renal impairment in survivors from childhood sarcoma. We investigated the prevalence of renal impairment and hypertension after very long-term follow-up in survivors who reached adulthood after treatment for ...
Andreoli, Gianmarco +6 more
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