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A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets

Jeong IH, Yoo JH, Kim N

X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of...
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Vitamin D insufficiency and its contributing factors in primary school-aged children in Indonesia, a sun-rich country

Pulungan A, Soesanti F, Tridjaja B, Batubara J

Purpose: The prevalence of rickets is increasing worldwide in association with an increase in vitamin D deficiency. This study aimed to investigate the vitamin D profile of healthy school-aged children...
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Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption

Yu SB, Lee Y, Oh A, Yoo HW, Choi JH

Purpose: Oral supplementation of vitamin D can be inefficient in patients with vitamin D deficiency caused by intestinal malabsorption. This study investigated the efficacy and safety of parenteral vitamin D...
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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

Jo HY, Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Jang JH, Kwak MJ

Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that...
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A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene

Kim YM, Jang YY, Jeong JE, Park HJ, Jang JH, Kim JK

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report...
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Skeletal mineralization: mechanisms and diseases

Michigami

Skeletal mineralization is initiated in matrix vesicles (MVs), the small extracellular vesicles derived from osteoblasts and chondrocytes. Calcium and inorganic phosphate (Pi) taken up by MVs form hydroxyapatite crystals, which...
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Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

Bak NR, Song ES, Yang EM, Kim CJ

Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1 . Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological...
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate...
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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

Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P

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...
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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

Cho JH, Kang E, Kim GH, Lee BH, Choi JH, Yoo HW

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who...
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Formula fed twin infants with recurrent hypocalcemic seizures with vitamin D deficient rickets and hyperphosphatemia

Jo BW, Shim YJ, Choi JH, Kim JS, Lee HJ, Kim HS

Vitamin D deficient rickets is generally known to occur in breast fed infants. And excessive phosphate ingestion is a main cause of late onset hypocalcemia in formula fed infants. Here...
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Cervical Ossification of Posterior Longitudinal Ligament in X-Linked Hypophosphatemic Rickets Revealing Homogeneously Increased Vertebral Bone Density

Shiba M, Mizuno M, Kuraishi K, Suzuki H

There is no report that describes in detail the radiological and intraoperative findings of rickets with symptomatic cervical ossification of the posterior longitudinal ligament. Here, we describe a case of...
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Risk Factors for Rickets of Prematurity in Extremely Low Birth Weight Infants

Choi YJ, Lee SM, Shin JE, Eun HS, Park MS, Park KI, Namgung R

PURPOSE: This study aimed to analyze the risk factors for the development of rickets of prematurity in extremely low birth weight (ELBW) infants. METHODS: We retrospectively reviewed the data of 57...
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Osteopetrosis Associated with Hydrocephalus and Rickets: A Case Report

Hwang SM, Kong YH, Kim SJ

  • KMID: 2176754
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):169-172.
Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we...
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A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets

Kang YE, Hong JH, Kim J, Joung KH, Kim HJ, Ku BJ, Kim KS

Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations...
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A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

Cheon CK, Lee HS, Kim SY, Kwak MJ, Kim GH, Yoo HW

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. Recently, a wide variety of PHEX gene...
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Refractory rickets caused by mild distal renal tubular acidosis

Lee JH, Park JH, Ha TS, Han HS

Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis,...
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Metabolic Bone Disease of Prematurity

Namgung R, Lee SM, Ehun HS, Park MS, Park KI, Lee C

  • KMID: 2312939
  • Neonatal Med.
  • 2013 Aug;20(3):276-282.
Preterm infants are at significant risk of reduced bone mineral content and subsequent bone disease, variably termed osteopenia of prematurity or neonatal rickets. The prevalence varies depending on gestation, occurs...
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Clinical Features of Seizures Related to Rickets in Breastfed Children

Kang B, Jung SY, Kim SK, Lee JE, Son BK, Kwon YS

  • KMID: 2059499
  • J Korean Child Neurol Soc.
  • 2012 Sep;20(3):179-187.
PURPOSE: This study was aimed to evaluate the clinical features of seizures in breastfed children with vitamin D deficient rickets. METHODS: Seventeen children, breastfed and diagnosed as vitamin D deficient rickets...
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High Incidence of Rickets in Extremely Low Birth Weight Infants with Severe Parenteral Nutrition-Associated Cholestasis and Bronchopulmonary Dysplasia

Lee SM, Namgung R, Park MS, Eun HS, Park KI, Lee C

Risk factors for rickets of prematurity have not been re-examined since introduction of high mineral formula, particularly in ELBW infants. We analyzed the incidence and the risk factors of rickets...
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