Results 81 to 90 of about 3,965 (174)
JCI InsightFibroblast growth factor 23 (FGF23) production has recently been shown to increase downstream of Gαq/11-PKC signaling in osteocytes. Inactivating mutations in the gene encoding Gα11 (GNA11) cause familial hypocalciuric hypercalcemia (FHH) due to impaired
Birol Ay +9 more
doaj +1 more source
A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family
JBMR PlusAbstract Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal PHEX gene, but autosomal dominant and recessive forms also exist.
Laura Koponen +8 more
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Genetic diseases resulting from disordered FGF23/klotho biology [PDF]
, 2017 Econs, Michael J.
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Mucolipidosis II presenting as severe neonatal hyperparathyroidism [PDF]
, 2018 Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder that usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture ...
Braverman, Nancy +9 more
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The Burden of Adult X-Linked Hypophosphatemia on Carers and Family Members: A Mixed-Methods Study
Journal of Health Economics and Outcomes ResearchIntroduction X-linked hypophosphatemia (XLH) is a rare, genetic disorder that severely impacts the health-related quality of life (HRQoL) of people living with the condition. This impact can also extend to carers and family members, described as a “spillover effect.” Measurement of spillover effects can lead to greater understanding of disease burden ...
Elina Matter +6 more
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FAMILIAL HYPOPHOSPHATEMIA: AN INHERITED DEMAND FOR INCREASED VITAMIN D?* [PDF]
Annals of the New York Academy of Sciences, 1961 J B, GRAHAM, R W, WINTERS
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Treatment of Familial Hypophosphatemia
Orthopedics & Traumatology, 1980 M. Oohama, K. Yamamoto, H. Kishimoto
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Oxidative Stress and Mitochondrial Injury in Chronic Multisymptom Conditions: From Gulf War Illness to Autism Spectrum Disorder [PDF]
, 2012 Background: Overlapping chronic multisymptom illnesses (CMI) include Chronic Fatigue Syndrome (CFS), fibromyalgia, irritable bowel syndrome, multiple chemical sensitivity, and Gulf War illness (GWI), and subsets of autism spectrum disorder (ASD).
Beatrice A. Golomb
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Journal of the Endocrine SocietyAbstract Context X-linked hypophosphatemia (XLH) is the most common form of inherited hypophosphatemic rickets (HR), caused by pathogenic variants in the PHEX gene. Genetic diagnosis of XLH facilitates early treatment optimization, especially for patients suitable for burosumab, a recombinant anti ...
Mohamed H Al-Hamed +3 more
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LABRAD : Vol 41, Issue 3 - December 2015 [PDF]
, 2015 Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
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