Results 21 to 30 of about 7,233,987 (192)

Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography. [PDF]

PLoS ONE
BackgroundX-linked hypophosphatemia (XLH) is the most common inherited form of rickets. The presence of sequence variations in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene is associated with increased production of fibroblast ...
Rena Okawa, Misato Takagi, Takashi Nakamoto, Naoya Kakimoto, Kazuhiko Nakano   +4 more
doaj   +3 more sources

X-Linked Hypophosphatemia with Whole Aspects

Endocrinology Research and Practice
X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in the PHEX gene, and it is a primary example of a genetic cause of hypophosphatemia.
Nergis Basmaci, Alper Gürlek
doaj   +2 more sources

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, Chaumet‐riffaud, Philippe, Blanchard, Anne, Dupeux, Margot, Rothenbuhler, Anya, Lambert, Benoit, Durand, Emmanuel, Boros, Erika, Briot, Karine, Silve, Caroline, Francou, Bruno, Piketty, Marie, Chanson, Philippe, Brailly‐tabard, Sylvie, Linglart, Agnès, Kamenický, Peter   +15 more
openaire   +3 more sources

X-linked hypophosphatemia with enthesopathy [PDF]

BMJ Case Reports, 2017
A 42-year-old man presented with lower limb bowing since childhood along with low backache and proximal muscle weakness for 8 years. He had strong family history of similar complaints in his elder brother, younger sister and daughter. Examination revealed loss of teeth and genu varum.
Rimesh, Pal, Anil, Bhansali
openaire   +2 more sources

A clinician's guide to X-linked hypophosphatemia [PDF]

Journal of Bone and Mineral Research, 2011
Abstract X-linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and support groups have all expressed concerns about the dearth of information about this disease and the lack of treatment guidelines, which frequently lead to missed ...
Thomas O, Carpenter, Erik A, Imel, Ingrid A, Holm, Suzanne M, Jan de Beur, Karl L, Insogna   +4 more
openaire   +3 more sources

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
doaj   +1 more source

Autism and X-linked hypophosphatemia: A possible association? [PDF]

, 2010
We herein report the joint occurrence of an autistic disorder (AD) and X-linked hypophosphatemia. X-linked hypophosphatemia (XLH), an X-linked dominant disorder, is the most common of the inherited renal phosphate wasting disorders. Autism is a pervasive
Hans, Hellemans, Joël, Vermeersch, Dirk, Deboutte   +2 more
core   +4 more sources

Hearing impairment in X-linked hypophosphatemia: a review. [PDF]

JBMR Plus
Abstract Although hearing impairment is often listed as a nonskeletal complication of X-linked hypophosphatemia (XLH), the prevalence, etiology, pathology, and natural history are poorly described. This review aims to summarize existing literature with a view to guide the clinical management of hearing impairment in XLH.
Oh S, Sandy JL, Munns CF, Simm PJ, Siafarikas A, Collins L, Wall CL, Craig ME, Rodda CP, Biggin A.   +9 more
europepmc   +6 more sources

Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review

JBMR Plus, 2023
Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X‐linked hypophosphatemia (XLH), is less common and is
Craig F Munns, Edward P Maguire, Angela Williams, Sue Wood, Andrew Biggin   +4 more
doaj   +1 more source

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, Ana Catarina Barbosa Rodrigues, Ana Patrícia Costa-Reis, Maria Rosário Arriaga Câmara Stone   +3 more
doaj   +1 more source