review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1515/JPEM-2014-0366 |
P698 | PubMed publication ID | 25894638 |
P2093 | author name string | Karuppiah Thilakavathy | |
Nurul Nadirah Razali | |||
Ting Tzer Hwu | |||
P2860 | cites work | MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia | Q24290092 |
Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent | Q24319643 | ||
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. | Q24540520 | ||
Database resources of the National Center for Biotechnology Information | Q24683601 | ||
Phosphate homeostasis and its role in bone health | Q28265843 | ||
Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation | Q33591785 | ||
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia | Q33636748 | ||
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets | Q33645895 | ||
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene | Q33645954 | ||
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. | Q34014158 | ||
Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction | Q34307627 | ||
Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation | Q35156029 | ||
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans | Q35497877 | ||
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. | Q35728669 | ||
Fibroblast growth factor 23: a phosphatonin regulating phosphate homeostasis? | Q35806103 | ||
A clinical and molecular genetic study of hypophosphatemic rickets in children | Q36213739 | ||
A role for surface hydrophobicity in protein-protein recognition | Q36278536 | ||
FGF23 is a hormone-regulating phosphate metabolism--unique biological characteristics of FGF23. | Q36727664 | ||
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets | Q36963886 | ||
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets | Q37160599 | ||
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets | Q37222267 | ||
Latest findings in phosphate homeostasis | Q37384718 | ||
Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood | Q37406152 | ||
Hypophosphatemia: the common denominator of all rickets | Q37510688 | ||
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment | Q37958645 | ||
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets | Q38053247 | ||
PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets | Q38118202 | ||
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation | Q39033165 | ||
Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein | Q40790516 | ||
The PEX gene: not a simple answer for X-linked hypophosphataemic rickets and oncogenic osteomalacia | Q41607810 | ||
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia | Q44414604 | ||
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene. | Q51439655 | ||
Familial hypophosphatemic vitamin D-resistant rickets--prevention of spontaneous dental abscesses on primary teeth: a case report. | Q51834026 | ||
Rickets | Q54297574 | ||
Hypophosphatemic rickets | Q56627579 | ||
P433 | issue | 9-10 | |
P304 | page(s) | 1009-1017 | |
P577 | publication date | 2015-04-18 | |
P1433 | published in | Journal of Pediatric Endocrinology and Metabolism | Q6295720 |
P1476 | title | Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets | |
P478 | volume | 28 |
Q52673977 | Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. |
Q49490282 | Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. |
Q52687353 | Genetic Causes of Rickets. |
Q47409527 | The impact of rickets on growth and morbidity during recovery among children with complicated severe acute malnutrition in Kenya: A cohort study. |
Q39107200 | X-linked hypophosphatemia and growth. |
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