Mostrando 381 - 400 Resultados de 924 Para Buscar '"The Rickets"', tiempo de consulta: 0.16s Limitar resultados
  1. 381
    “…Across these disorders, the clinical symptoms are similar and often include osteomalacia (hypophosphatemic rickets in children), muscle weakness, fatigue, joint deformities, bone pain, and fractures. …”
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    A case report to assess the safety and efficacy of Burosumab, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome and associated hypophosphatemic rickets
  2. 382
    “…Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. …”
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    Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A
  3. 383
    “…BACKGROUND: Vitamin D-dependent rickets type 1A (VDDR1A) rickets is an uncommon kind of rickets that affects both boys and girls. …”
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    Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report
  4. 384
    “…X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. …”
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    Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription
  5. 385
    “…Mutated VDR often causes hereditary vitamin D-dependent rickets (VDDR) type II, and patients with VDDR-II are hardly responsive to physiological doses of 1,25(OH)D(3). …”
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    Robust osteogenic efficacy of 2α-heteroarylalkyl vitamin D analogue AH-1 in VDR (R270L) hereditary vitamin D-dependent rickets model rats
  6. 386
    “…BACKGROUND: Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D(3 )(1,25(OH)(2)D) serum levels. …”
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    Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)(2)D serum levels are associated with PHEX mutation type
  7. 387
    “…Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive disorder characterized by hypophosphatemia, rickets, hyperphosphaturia, elevated 1,25(OH)(2)D, and hypercalciuria. …”
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    Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone
  8. 388
    por Boucher, Barbara J
    Publicado 2022
    “…High vitamin D deficiency rates, with rickets and osteomalacia, have been common in South Asians (SAs) arriving in Britain since the 1950s with preventable infant deaths from hypocalcaemic status-epilepticus and cardiomyopathy. …”
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    Vitamin D deficiency in British South Asians, a persistent but avoidable problem associated with many health risks (including rickets, T2DM, CVD, COVID-19 and pregnancy complications): the case for correcting this deficiency
  9. 389
    por Marine, David
    Publicado 1914
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    OBSERVATIONS ON TETANY IN DOGS : RELATION OF THE PARATHYROIDS TO THE THYROID; RELATION OF TETANY TO AGE, AMOUNT OF PARATHYROID TISSUE REMOVED, ACCESSORY PARATHYROIDS, PREGNANCY, LACTATION, RICKETS, SULPHUR, AND DIET; RELATION OF PARATHYROIDS TO SUGAR TOLERANCE; EFFECT OF CALCIUM SALTS.
  10. 390
    “…CONTEXT: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessively inherited disorder due to loss-of-function mutations in the CYP27B1 gene. …”
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    Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error
  11. 391
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    Exploratory cost-effectiveness model of electromagnetic navigation bronchoscopy (ENB) compared with CT-guided biopsy (TTNA) for diagnosis of malignant indeterminate peripheral pulmonary nodules
  12. 392
    “…There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion syndrome overlap, the correct diagnosis may be missed without a standardized approach to genetic testing consisting of both karyotype and microarray. …”
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    X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
  13. 393
    “…Although diet and adequate sun exposure should provide enough of this nutrient, there is a high prevalence of vitamin D deficiency rickets worldwide. Children with certain conditions that lead to decreased vitamin D production and/or absorption are at the greatest risk of nutritional rickets. …”
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    25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics
  14. 394
    por Baradhi, Krishna
    Publicado 2022
    “…X-linked hypophosphatemia (XLH), also referred to as vitamin D-resistant rickets or X-linked dominant hypophosphatemic rickets, is a very rare metabolic disorder. …”
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    Dramatic Transformation After Burosumab in a Young Boy With X-linked Hypophosphatemia: A Life-Changing Saga
  15. 395
    “…XLH is the most frequent inherited cause of phosphopenic rickets/osteomalacia. Hypophosphatemia is also found in calcipenic rickets/osteomalacia as a result of secondary hyperparathyroidism. …”
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    Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries
  16. 396
    “…Bursicon heterodimers and homodimers bind to the lucine-rich G-protein coupled receptor (LGR) encoded by rickets to regulate multiple physiological processes in arthropods. …”
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    Neuropeptide hormone bursicon mediates female reproduction in the whitefly, Bemisia tabaci (Hemiptera: Aleyrodidae)
  17. 397
    Publicado 1989
    “…Northern hybridization of mRNA and biosynthetic studies have confirmed that type X collagen synthesis in rickets is also decreased. In hypocalcemic rickets, the level of type X collagen mRNA is reduced by 80% whereas the level of type X collagen mRNA is only reduced by 50% in normocalcemic rickets. …”
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    Comparative studies of type X collagen expression in normal and rachitic chicken epiphyseal cartilage
  18. 398
    “…Yet vitamin D deficiency rickets is entirely preventable, with the caveat that when rickets occurs in the absence of preexisting risk factors and/or is poorly responsive to adequate treatment, consideration needs to be given to genetic forms of rickets.…”
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    Shedding Light on Vitamin D Status and Its Complexities during Pregnancy, Infancy and Childhood: An Australian Perspective
  19. 399
    “…Rickets is a disorder of impaired bone mineralization that can arise from nutritional deficiencies and inherited conditions. …”
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    Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl
  20. 400
    “…Iron deficiency anaemia is prevalent in The Gambia and concentrations of fibroblast growth factor-23 FGF23 are elevated in a large percentage of Gambian children with rickets-like bone deformity. We speculate that low iron status may be involved in the aetiology of Gambian rickets. …”
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    Iron status and fibroblast growth factor-23 in Gambian children
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