Mostrando 341 - 360 Resultados de 924 Para Buscar '"The Rickets"', tiempo de consulta: 5.70s Limitar resultados
  1. 341
    “…Herein we report a long term followup of a 10-year-old female presenting at 1 year of age with rickets initially misdiagnosed as vitamin D deficiency rickets. …”
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    Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome
  2. 342
    “…Vitamin D‐dependent rickets type 1 VDDR‐1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. …”
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    Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
  3. 343
    “…The effects of rickets on children recovery from severe acute malnutrition (SAM) are unknown. …”
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    The impact of rickets on growth and morbidity during recovery among children with complicated severe acute malnutrition in Kenya: A cohort study
  4. 344
    “…Children with Hereditary Hyphophosphatemic Rickets (HHR) are characterized by hypophosphatemia, rickets and disproportionate short stature. …”
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    SAT-LB051 Longitudinal Growth in Height and Changes in Body Proportions in Children with Hereditary Hypophosphatemic Rickets in a Single Center
  5. 345
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    Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria
  6. 346
    por Jeong, In Hwa, Yoo, Jae-Ho, Kim, Namhee
    Publicado 2021
    “…In this report, we describe a case of X-linked hypophosphatemic rickets in a patient with a rare pathogenic PHEX variant. …”
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    A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
  7. 347
    “…BACKGROUND: X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing. …”
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    X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro
  8. 348
    “…This is the most common form of genetic rickets. It is characterized by renal phosphate wasting determining an increase in fibroblast growth factor 23 (FGF-23), growth retard, bone deformities and musculoskeletal manifestations. …”
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    The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults
  9. 349
    “…Of these, 18 showed radiologic rickets and 14 showed osteopenia without rickets. …”
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    High frequencies of elevated alkaline phosphatase activity and rickets exist in extremely low birth weight infants despite current nutritional support
  10. 350
    “…Hypophosphatemic rickets (HR) is a rare inherited disorder characterized by a classic rickets phenotype with low plasma phosphate levels and resistance to treatment with vitamin D. …”
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    Three-Year Successful Cinacalcet Treatment of Secondary Hyperparathyroidism in a Patient with X-Linked Dominant Hypophosphatemic Rickets: A Case Report
  11. 351
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    Incidence and characteristics of vitamin D deficiency rickets in New Zealand children: a prospective New Zealand paediatric surveillance unit study
  12. 352
    “…Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is caused by mutations in the VDR gene, and its inheritance is autosomal recessive. …”
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    Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance
  13. 353
    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 Hemoptysis
  14. 354
    por Gao, Yue, Wang, Zhi-Min, Li, Xia-Lian
    Publicado 2018
    “…RATIONALE: X-linked dominant hypophosphatemia rickets (XLH, OMIM 307800) is the most common hereditary hypophosphatemic rickets and characterized by growth retardation, skeletal malformations, dental dysplasia, spontaneous fractures and osteomalacia. …”
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    Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports
  15. 355
    “…Tumor-induced rickets/osteomalacia (TIO) is a rare paraneoplastic syndrome caused by tumors that ectopically express fibroblast growth factor 23 (FGF23). …”
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    Ectopic expression of Klotho in fibroblast growth factor 23 (FGF23)-producing tumors that cause tumor-induced rickets/osteomalacia (TIO)
  16. 356
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    The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
  17. 357
    “…RATIONALE: Vitamin D-dependent rickets type I (VDDR-I) is a rare form of rickets, which is an autosomal recessive disease caused by 1α-hydroxylase enzyme deficiency. …”
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    Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I: A case report
  18. 358
    “…Tumor-induced rickets/osteomalacia (TIR/O) severely impairs bone microarchitecture and bone strength. …”
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    Bone Volumetric Density, Microarchitecture, and Estimated Bone Strength in Tumor-Induced Rickets/Osteomalacia Versus X-linked Hypophosphatemia in Chinese Adolescents
  19. 359
    “…Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hereditary rickets, which is characterized by defective bone mineralization and renal phosphate wasting due to a loss-of-function variant in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene. …”
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    Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
  20. 360
    “…Background: Early childhood rickets increased in Alaska Native children after decreases in vitamin D-rich subsistence diet in childbearing-aged women. …”
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    Impact of a Prenatal Vitamin D Supplementation Program on Vitamin D Deficiency, Rickets and Early Childhood Caries in an Alaska Native Population
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