Mostrando 361 - 380 Resultados de 924 Para Buscar '"The Rickets"', tiempo de consulta: 0.49s Limitar resultados
  1. 361
    “…PURPOSE: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the CYP27B1 gene. …”
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    Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study
  2. 362
    “…Burosumab is a monoclonal anti-FGF23 antibody used to treat patients with X-linked hypophosphatemic rickets (XLH). Its effect on serum phosphate and physical performance was compared in patients during a 6-month treatment with burosumab. …”
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    Different Efficacy of Burosumab on Physical Performance and Serum Phosphate in Adult Patients with X-Linked Hyphophosphatemic Rickets during the First Six-Month of Treatment
  3. 363
    “…Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels. …”
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    De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
  4. 364
    “…Inherited rickets of Corriedale sheep is characterized by decreased growth rate, thoracic lordosis and angular limb deformities. …”
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    A Novel Nonsense Mutation in the DMP1 Gene Identified by a Genome-Wide Association Study Is Responsible for Inherited Rickets in Corriedale Sheep
  5. 365
    “…We deployed the stent graft from the ascending aorta with a tube graft conduit to treat a descending thoracic aortic aneurysm associated with rickets and multiple comorbidities. Although the application of a ministernotomy diminished the potential advantages of endovascular treatment in view of less invasive surgery, antegrade TEVAR using an ascending aortofemoral through-and-through wire technique was a good option in this patient because a conventional retrograde approach was not feasible due to his severely tortuous aorta. …”
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    Antegrade thoracic endovascular aortic repair using an ascending aortofemoral through-and-through wire technique for a severely tortuous aorta associated with rickets
  6. 366
    Publicado 1845
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    Miscellaneous Contributions to Pathology and Therapeutics; Being a Series of Original and Practical Papers on Rickets, Hydrocephalus, Impotence, and Sterility, Pulmonary Apoplexy, and Hæmoptysis, &c.
  7. 367
    “…Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. …”
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    Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
  8. 368
    “…Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1)-related multiple arterial stenoses is a rare clinical syndrome in which global arterial calcification begins in infancy, with a high probability of early mortality, and hypophosphatemic rickets develops later in childhood. The vascular status of an ENPP1-mutated patient when they enter the rickets phase has not been thoroughly explored. …”
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    Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
  9. 369
    “…Conventional therapy for rickets in CSHS (phosphate salts and bioactive vitamin D) mirrors treatment for X-linked hypophosphatemia (XLH) with elevated circulating FGF23. …”
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    SAT-LB085 First Report of Burosumab (Anti-FGF23 Monoclonal Antibody) for Rickets Complicating HRAS-Associated Cutaneous Skeletal Hypophosphatemia Syndrome
  10. 370
    “…XLHR is the most common inheritable form of rickets, with an incidence of 1/20 000 in humans. …”
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    Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets
  11. 371
    “…BACKGROUND: X‐linked hypophosphatemic rickets (XLH) is a heterogeneous genetic phosphate wasting disorder that occupies the majority of inheritable hypophosphatemic rickets (HR). …”
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    A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family
  12. 372
    “…Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. …”
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    Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
  13. 373
    “…Methods: We measured serum concentrations of calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), PTH, vitamin D, IGF-I, IGFBP-3, and IGFBP-4 in infants (n=22) with nutritional rickets before and after treatment of rickets with vitamin D (300 000 U single dose po). …”
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    Circulating Insulin-like Growth Factor Binding Protein-4 (IGFBP-4) is not Regulated by Parathyroid Hormone and Vitamin D in vivo: Evidence from Children with Rickets
  14. 374
    “…Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. …”
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    A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report
  15. 375
    “…CONTEXT: Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by biallelic mutations in the vitamin D receptor (VDR) gene. …”
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    Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array
  16. 376
    “…AIM: To compare efficacy and safety of 90,000 IU versus 300,000 IU oral single dose vitamin D for treatment of nutritional rickets. STUDY DESIGN: Randomized controlled trial. …”
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    Efficacy and Safety of 90,000 IU versus 300,000 IU Single Dose Oral Vitamin D in Nutritional Rickets: A Randomized Controlled Trial
  17. 377
    “…BACKGROUND: Vitamin D-dependent rickets is rare in animals and humans. Several types of this condition are associated with genetic variants related to vitamin D metabolism. …”
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    A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report
  18. 378
    “…Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. …”
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    A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene
  19. 379
    “…CONCLUSION: X-linked hypophosphatemic rickets is an uncommon disorder of phosphate metabolism resulting in bone deformity. …”
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    The use of pre-operative imaging and intraoperative parathyroid hormone level to guide surgical management of tertiary hyperparathyroidism from X-linked hypophosphatemic rickets: a case report
  20. 380
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    Notes from the Field: Vitamin D–Deficient Rickets and Severe Hypocalcemia in Infants Fed Homemade Alkaline Diet Formula — Three States, August 2020–February 2021
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