Mostrando 321 - 340 Resultados de 924 Para Buscar '"The Rickets"', tiempo de consulta: 0.71s Limitar resultados
  1. 321
    “…BACKGROUND: Hypophosphatemic rickets (HR) is a genetic disease of phosphate wasting that is characterized by defective bone mineralization. …”
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    Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets
  2. 322
    “…Vitamin D-dependent rickets (VDDR) type 1A is a rare autosomal recessive disorder caused by cytochrome P450 family 27 subfamily B member 1 (CYP27B1) mutations and can lead to deficiencies in 1α-hydroxylase activity. …”
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    Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report
  3. 323
    “…BACKGROUND: X-linked hypophosphatemia is the most prevalent form of heritable rickets, characterized by an X-linked dominant inheritance pattern. …”
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    A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets
  4. 324
    “…Type II rickets is a hereditary disease caused by a mutation in the vitamin D receptor (VDR) gene. …”
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    Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector
  5. 325
    “…The cause of the hypocalcemia was vitamin D deficient rickets. She was exclusively breast-fed as an infant, and her mother had a vitamin D deficiency and was diagnosed with osteomalacia.…”
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    Dilated Cardiomyopathy in a 2 Month-Old Infant: A Severe Form of Hypocalcemia With Vitamin D Deficient Rickets
  6. 326
    “…Risk factors for rickets of prematurity have not been re-examined since introduction of high mineral formula, particularly in ELBW infants. …”
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    High Incidence of Rickets in Extremely Low Birth Weight Infants with Severe Parenteral Nutrition-Associated Cholestasis and Bronchopulmonary Dysplasia
  7. 327
    “…The aim of this study was to find out the ideal cut-off level of phosphate for safe healing when deformity correction and concomitant lengthening are indicated in the two different skeletal maturity groups of patients with rickets. Thirty-nine hypophosphatemic rickets patients were selected for the study and were divided into two groups: 27 skeletally immature (group IM) and 12 skeletally mature (group M). …”
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    The Significance of Serum Phosphate Level on Healing Index and Its Relative Effects in Skeletally Immature and Mature Patients with Hypophosphatemic Rickets
  8. 328
    “…X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. …”
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    A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
  9. 329
    “…There is no report that describes in detail the radiological and intraoperative findings of rickets with symptomatic cervical ossification of the posterior longitudinal ligament. …”
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    Cervical Ossification of Posterior Longitudinal Ligament in X-Linked Hypophosphatemic Rickets Revealing Homogeneously Increased Vertebral Bone Density
  10. 330
    “…Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. …”
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    Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A
  11. 331
    “…PRESENTATION OF CASE: In this case report “atraumatic bilateral femoral neck fracture in a 26 year old woman in postpartum period with hypophosphatemic rickets disease” is presented. DISCUSSION: Femoral neck fractures are more frequently seen in elderly because of the reduction of bone quality and developing osteoporosis. …”
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    Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis
  12. 332
    “…The functional study of different mutations on vitamin D receptor (VDR) gene causing hereditary vitamin D-resistant rickets (HVDRR) remains limited. This study was to determine the VDR mutation and the mechanisms of this mutation-causing phenotype in a family with HVDRR and alopecia. …”
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    Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
  13. 333
    “…X-linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X-linked dominant disorder caused by mutations in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene, which is located at Xp22.11. …”
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    Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families
  14. 334
    por Thakur, Moni
    Publicado 2019
    “…In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. …”
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    Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations
  15. 335
    “…Consistent with decreases in rickets severity, burosumab improved growth and mobility. …”
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    OR13-2 Burosumab Resulted in Greater Improvement in Rickets Than Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH)
  16. 336
    “…Background: X-linked hypophosphataemia is the most common heritable form of rickets in children, disorder caused by mutations in PHEX, leading to elevated secretion of FGF23, renal phosphate wasting with consequent hypophosphataemia, diminish synthesis of 1,25(OH)2 vitamin D, rickets/osteomalacia, and disproportionate short stature. …”
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    SUN-345 Use of Anti-FGF23 Monoclonal Antibody in the Treatment of Children and Adolescents with X-Linked Hypophosphatemic Rickets
  17. 337
    “…Endocrinological manifestations such as hypophosphataemic rickets depict a recent finding within the phenotypic spectrum of nonlethal RS. …”
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    Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients' Dental Management
  18. 338
    “…While the pathomechanism for rickets is well understood, the direct role of PHEX (Phosphate-regulating neutral endopeptidase) deficiency in non-rachitic features including complex deformities, skull and dental affections remains unclear. …”
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    Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study
  19. 339
    “…Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. …”
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    Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets
  20. 340
    “…We have previously reported on a case-series of children (n = 46) with suspected calcium-deficiency rickets who presented in The Gambia with rickets-like bone deformities. …”
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    Follow-up study of Gambian children with rickets-like bone deformities and elevated plasma FGF23: Possible aetiological factors()()
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