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what is 'vitamin D dependent rickets type 1 - inherited form of rickets '?
Definition for vitamin D dependent rickets type 1
http://www.emedicine.com/ped/topic2854.htm
do i have 'vitamin D dependent rickets type 1'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'vitamin D dependent rickets type 1'
1 - 5 of
9
diagnostic tests
Serum 25-Hydroxyvitamin D
vitamin D dependent rickets type 1 and Serum 25-Hydroxyvitamin D
X-ray bones
vitamin D dependent rickets type 1 and X-ray bones
Serum 1,25 dihydroxyvitamin D
active hormonal form of vitamin D
vitamin D dependent rickets type 1 and Serum 1,25 dihydroxyvitamin D
Serum Alkaline Phosphatase (ALP)
vitamin D dependent rickets type 1 and Serum Alkaline Phosphatase (ALP)
Serum Parathyroid hormone (PTH)
vitamin D dependent rickets type 1 and Serum Parathyroid hormone (PTH)
Serum calcium
vitamin D dependent rickets type 1 and Serum calcium
Serum ionized calcium
vitamin D dependent rickets type 1 and Serum ionized calcium
Serum phosphorus
vitamin D dependent rickets type 1 and Serum phosphorus
Serum Albumin
type of protein in human plasma
vitamin D dependent rickets type 1 and Serum Albumin
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therapeutic procedures for 'vitamin D dependent rickets type 1'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for vitamin D dependent rickets type 1:
therapeutic procedure search results for 'vitamin D dependent rickets type 1'
1 - 5 of
8
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Adequate Calcium Intake
vitamin D dependent rickets type 1 and Adequate Calcium Intake
Adequate Vitamin D Intake
vitamin D dependent rickets type 1 and Adequate Vitamin D Intake
Bracing
vitamin D dependent rickets type 1 and Bracing
Increase Exposure to Sunlight
vitamin D dependent rickets type 1 and Increase Exposure to Sunlight
Leg Braces
vitamin D dependent rickets type 1 and Leg Braces
Nutritional counseling
vitamin D dependent rickets type 1 and Nutritional counseling
Spinal Deformity Correction
vitamin D dependent rickets type 1 and Spinal Deformity Correction
diet modification
vitamin D dependent rickets type 1 and diet modification
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medications search results for 'vitamin D dependent rickets type 1'
1 - 2 of
2
medications
rankings are computer generated. please consult your health care provider.
vitamin D
vitamin D dependent rickets type 1 and vitamin D
calcitriol
vitamin D dependent rickets type 1 and calcitriol
web search results for 'vitamin D dependent rickets type 1'?
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Results
1 - 50
- vitamin D dependent rickets type 1
PMID 1652893
... rickets type II is a hereditary disease resulting from a defective vitamin D receptor. ... Zinc Fingers genetics PMC1683124 1991 9 1 1991 9 1 0 1 1991910 ...
http://www.ncbi.nlm.nih.gov/pubmed/1652893
www.ncbi.nlm.nih.gov
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Vitamin D: Vitamin Deficiency, Dependency, and Toxicity: Merck Manual ...
Type I hereditary vitamin D?dependent rickets responds to 1,25(OH)2D 1 to 2 ?g po once/day. ... with type II hereditary vitamin D?dependent rickets respond to ...
http://www.merck.com/mmpe/sec01/ch004/ch004k.html
www.merck.com
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Vitamin D - MayoClinic.com
In children, vitamin D deficiency causes rickets, which results in skeletal ... liver oil as a source of vitamin D to reduce the incidence of type 1 diabetes. ...
http://www.mayoclinic.com/health/vitamin-d/NS_patient-vitamind/METHOD=print
www.mayoclinic.com
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summary
MedlinePlus Herbs and Supplements: Vitamin D
In children, vitamin D deficiency causes rickets, which results in skeletal ... liver oil as a source of vitamin D to reduce the incidence of type 1 diabetes. ...
http://www.nlm.nih.gov/medlineplus/druginfo/natural/patient-vitamind.html
www.nlm.nih.gov
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summary
Vitamin D-dependent rickets type 2 in a four-month-old cat.
1: J Am Vet Med Assoc. 2003 Feb 1;222(3):337-9, 315-6. ... Substances: Vitamin D. Calcitriol. Calcium. PMID: 12564596 [PubMed - indexed for MEDLINE] ...
http://www.ncbi.nlm.nih.gov/pubmed/12564596
www.ncbi.nlm.nih.gov
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Genomics|HuGENet|Reviews|Vitamin D and Osteoporosis
... mutations cause hereditary vitamin D resistant rickets, a rare autosomal ... be VDR genotype dependent differences in intestinal sensitivity to 1,25(OH)2D. ...
http://www.cdc.gov/genomics/hugenet/reviews/vitaminD.htm
www.cdc.gov
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Is vitamin D hypothesis for schizophrenia valid? Independent ...
The coexistence of vitamin-D-dependent-rickets type II with alopecia (VDDR IIA) ... that (1) the neurodevelopmental consequences of vitamin D deficiency do ...
http://www.ncbi.nlm.nih.gov/pubmed/14751420
www.ncbi.nlm.nih.gov
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Vitamins and Calcium Supplements Glossary of Terms with Definitions on ...
... insulin dependent (type 1) and non-insulin dependent (type 2) diabetes. ... to such supplements of vitamin D, nutritional rickets has become relatively rare ...
http://www.medicinenet.com/vitamins_and_calcium_supplements/glossary.htm
www.medicinenet.com
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summary
Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations ...
... D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. ... sequence of the key enzyme in the biological activation of vitamin D. ...
http://www.ncbi.nlm.nih.gov/pubmed/9415400
www.ncbi.nlm.nih.gov
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Calcitriol receptor - Wikipedia, the free encyclopedia
Mutations in this gene are associated with type II vitamin D-resistant rickets. ... vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. ...
http://en.wikipedia.org/wiki/Calcitriol_receptor
en.wikipedia.org
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AceView: Gene:METTL1andCYP27B1, a comprehensive annotation of human ...
... of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?exdb...
www.ncbi.nlm.nih.gov
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Genomics|HuGENet|Reviews|References|Vitamin D and Osteoporosis|PubMed ...
... PJ, Pike JW, Feldman D. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets. ... Polymorphisms in the vitamin D receptor- and collagen type Ia1 gene predict ...
http://www.cdc.gov/genomics/hugenet/reviews/tables/vitaminD_Ref.htm
www.cdc.gov
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Disorders of Calcium Concentration: Fluid and Electrolyte Metabolism ...
In type II vitamin D?dependent rickets, target organs cannot respond to 1,25(OH)2D. ... Type I vitamin D?dependent rickets responds to calcitriol Some Trade ...
http://www.merck.com/mmpe/sec12/ch156/ch156g.html
www.merck.com
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summary
Novel gene mutations in patients with 1alpha-hydroxylase deficiency ...
... step in the biological activation of vitamin D is its 1alpha-hydroxylation to 1, ... also known as vitamin D-dependent rickets type 1. None of the missense ...
http://www.ncbi.nlm.nih.gov/pubmed/12050193
www.ncbi.nlm.nih.gov
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summary
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
Vitamin D-dependent rickets type I (VDDR-I), also known as pseudo-vitamin ... 25-Hydroxyvitamin D3 1-alpha-Hydroxylase/deficiency ...
http://www.ncbi.nlm.nih.gov/pubmed/9837822
www.ncbi.nlm.nih.gov
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summary
Hypocalcaemia - Wikipedia, the free encyclopedia
Vitamin-D dependent rickets, type II. Pseudohypoparathyroidism. Deficient PTH ... Maintenance doses of both calcium and vitamin-D (often as 1,25-(OH)2-D3, i.e. ...
http://en.wikipedia.org/wiki/Hypocalcaemia
en.wikipedia.org
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Vitamins
... 1 year of age may help protect them from developing type 1 diabetes ... ( Note: vitamin D is toxic in high doses, and no one should exceed the recommended ...
http://adam.about.com/reports/Vitamins.htm
adam.about.com
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summary
Lips P 2006 Vitamin D physiology. Prog. Biophys. Mol. Biol. 92: 4-8.
Severe vitamin D deficiency causes rickets or osteomalacia, where the ... of auto-immune diseases such as multiple sclerosis and diabetes type 1, and cancer. ...
http://www.ncbi.nlm.nih.gov/pubmed/16563471
www.ncbi.nlm.nih.gov
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Vitamin D-dependent rickets as a possible risk factor for multiple ...
BACKGROUND: Vitamin D-dependent rickets type I (VDDR I) (OMIM 264700) is a rare ... other hereditary rickets mutations that influence vitamin D metabolism could be ...
http://www.ncbi.nlm.nih.gov/pubmed/18541802
www.ncbi.nlm.nih.gov
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Complete structure of the human gene for the vitamin D 1alpha ...
... of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha. ... enzyme is the factor disrupted in vitamin D-dependent rickets, type 1 (VDDR-1) ...
http://www.ncbi.nlm.nih.gov/pubmed/9428799
www.ncbi.nlm.nih.gov
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Bikle DD 1982 The vitamin D endocrine system. Adv. Intern. Med. 27: 45-71.
... vitamin D must be hydroxylated to 250HD, principally in the liver, and to 1,25 ... problem of vitamin D metabolism; and vitamin D dependent rickets type II is the ...
http://www.ncbi.nlm.nih.gov/pubmed/7041549
www.ncbi.nlm.nih.gov
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The alopecias associated with vitamin D-dependent rickets type IIA and ...
1: Arch Dermatol. 2005 Mar;141(3):343-51. ... Proteins. Transcription Factors. Vitamin D. PMID: 15781675 [PubMed - indexed for MEDLINE] ...
http://www.ncbi.nlm.nih.gov/pubmed/15781675?dopt=Citation
www.ncbi.nlm.nih.gov
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Vitamin D-dependent rickets type II in a cat.
1: J Small Anim Pract. 2005 Sep;46(9):440-4. Comment in: J Small Anim Pract. ... signs Indicating rickets was diagnosed as having a defect of vitamin D receptors. ...
http://www.ncbi.nlm.nih.gov/pubmed/16167595?ordinalpos=4&ito...
www.ncbi.nlm.nih.gov
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Tyrosinemia Type 1 -- GeneReviews -- NCBI Bookshelf
... Vitamin D deficiency (nutritional/genetic) Hypophosphatemic rickets Vitamin ... St-Vil D. Imaging features of type 1 hereditary tyrosinemia: a review of 30 ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tyrosinemia
www.ncbi.nlm.nih.gov
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25-Hydroxyvitamin D-24-hydroxylase in phytohemagglutinin-stimulated ...
... to 1,25-dihydroxyvitamin D3 of cells from parents of patients ... applied to determine whether vitamin D-dependent rickets type II (VDDR II) is hereditary. ...
http://www.ncbi.nlm.nih.gov/pubmed/2156884
www.ncbi.nlm.nih.gov
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MRDEF.RRF
... TYPE 1 RECEPTOR.|N|| C0000119|A0016627|AT38151890||MSH|A group of ... which is the active form of VITAMIN D in regulating bone growth and calcium metabolism. ...
http://www.nlm.nih.gov/research/umls/online%20learning/data%20files/MRDEF.RRF
www.nlm.nih.gov
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Lack of the vitamin D receptor is associated with reduced epidermal ...
... vitamin D metabolite, 1,25-dihydroxyvitamin D, acting through the vitamin D ... D-dependent rickets type II in humans, including the development of rickets and ...
http://www.ncbi.nlm.nih.gov/pubmed/11851870
www.ncbi.nlm.nih.gov
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Drug Information for Vitamin D-3 Oral - WebMD
... Parathyroid Hormone, Rickets, Rickets that is Dependent on Vitamin D Levels in ... MedWatch website or call 1-800-FDA-1088. Health A-Z ... Type 2 Diabetes? ...
http://www.webmd.com/drugs/drug-10175-Vitamin+D-3+Oral.aspx?...
www.webmd.com
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Mice lacking the vitamin D receptor exhibit impaired bone formation ...
1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, ... impaired as a typical feature of vitamin D-dependent rickets type II (refs 8, 9) ...
http://www.ncbi.nlm.nih.gov/pubmed/9241280
www.ncbi.nlm.nih.gov
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The vitamin D hormone and its nuclear receptor: molecular actions and ...
... actions of 1,25(OH)2D3 are mediated by the nuclear vitamin D receptor (VDR), a ... hereditary hypocalcemic vitamin D-resistant rickets (HVDRR), natural mutations ...
http://www.ncbi.nlm.nih.gov/pubmed/9379138
www.ncbi.nlm.nih.gov
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Vitamin D - Wikipedia, the free encyclopedia
Vitamin D: importance in the prevention of cancers, type 1 diabetes, heart ... Vitamin D, cod-liver oil, sunlight, and rickets: a historical perspective" ...
http://en.wikipedia.org/wiki/Vitamin_D
en.wikipedia.org
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The parathyroid glands and vitamin D -- Endocrinology -- NCBI Bookshelf
Type 1, also known as pseudovitamin D deficiency, is not ... Type 2 vitamin D resistance, otherwise known as hereditary vitamin D resistant rickets (VDRR) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=endocrin&part=A742
www.ncbi.nlm.nih.gov
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PMID 15574355
... CYP27B1 gene found in vitamin D-dependent rickets type I (VDDR-I) patients ... more than 70 % of the vitamin D metabolites observed in a living body ...
http://www.ncbi.nlm.nih.gov/pubmed/15574355
www.ncbi.nlm.nih.gov
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Tyrosinemia Type 1
Note: (1) Infants with tyrosinemia type I may have only ... Vitamin D deficiency (nutritional/genetic) Hypophosphatemic rickets. Vitamin D-dependent rickets ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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OMIM Update List for April, 1997
120325 COLLAGEN, TYPE XV, ALPHA-1 POLYPEPTIDE COL15A1 ... 277440 VITAMIN D-RESISTANT RICKETS: END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.1997
www.ncbi.nlm.nih.gov
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Search Results
Results 1-10. Hypophosphatemic Rickets: Renal Transport Abnormalities: Merck Manual ... Vitamin D has 2 main forms: D2 ( ergocalciferol Some Trade Names DRISDOL Click ...
http://www.merck.com/mrksearch/SearchServlet?filtN=professio...
www.merck.com
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OMIM Update List for May, 1997
277440 VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25 ... VITAMIN D RECEPTOR; VDR. 601773 PROTEIN TYROSINE PHOSPHATASE, RECEPTOR TYPE, N; ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.1997
www.ncbi.nlm.nih.gov
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OMIM Update List for November, 1997
601769 VITAMIN D RECEPTOR; VDR. 602034 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 2; CRHR2 ... 192500 LONG QT SYNDROME, TYPE 1; LQT1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.1997
www.ncbi.nlm.nih.gov
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Drug Information for Cholecalciferol (Vitamin D3) Oral - WebMD
... Parathyroid Hormone, Rickets, Rickets that is Dependent on Vitamin D Levels in ... 1 Reviews for this Drug. - OR - Related to Cholecalciferol (Vitamin D3) ...
http://www.webmd.com/drugs/drug-6152-Cholecalciferol+(Vitami...
www.webmd.com
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Cystic Fibrosis Glossary of Terms with Definitions on MedicineNet.com
... is now recognized as a type of nonspecific immune response. ... of one particular nutrient (for example, vitamin C deficiency) ... definition of Vitamin D ...
http://www.medicinenet.com/cystic_fibrosis/glossary.htm
www.medicinenet.com
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summary
ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases ...
Oculocutaneous albinism type 1 (tyrosinase-negative) (ILDS E70.314) ... Vitamin-D-resistant osteomalacia. Vitamin-D-resistant rickets ...
http://en.wikipedia.org/wiki/ICD-10_Chapter_IV:_Endocrine,_n...
en.wikipedia.org
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OMIM Update List for June, 1998
114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C ... 601769 VITAMIN D RECEPTOR; VDR. 601875 MOVED TO 601630 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.1998
www.ncbi.nlm.nih.gov
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OMIM Update List for December, 1998
120435 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 1 ... 264700 PSEUDOVITAMIN D DEFICIENCY RICKETS ... 601769 VITAMIN D RECEPTOR; VDR ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.1998
www.ncbi.nlm.nih.gov
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OMIM Update List for July, 2001
... KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A ... D DEFICIENCY RICKETS ... 601769 VITAMIN D RECEPTOR; VDR. 602457 FAS-ASSOCIATED VIA ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2001
www.ncbi.nlm.nih.gov
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OMIM Update List for July, 1998
277440 VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25 ... 111680 RHESUS BLOOD GROUP, D ANTIGEN; RHD. 113705 BREAST CANCER, TYPE 1; BRCA1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.1998
www.ncbi.nlm.nih.gov
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OMIM Update List for March, 1998
601769 VITAMIN D RECEPTOR; VDR. 602017 PROTEASOME SUBUNIT, BETA TYPE, 1; PSMB1 ... 264700 PSEUDOVITAMIN D DEFICIENCY RICKETS; PDDR ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.1998
www.ncbi.nlm.nih.gov
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OMIM Update List for October, 1996
... D; APOD. 120140 COLLAGEN, TYPE II, ALPHA-1 CHAIN; ... 277440 VITAMIN D-RESISTANT RICKETS: END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.1996
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for February, 1997
277440 VITAMIN D-RESISTANT RICKETS: END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ... 114078 CALMODULIN-DEPENDENT PROTEIN KINASE TYPE IIA; CAMK2A ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.1997
www.ncbi.nlm.nih.gov
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CYP2R1 - NextBio
... D hydroxylase that converts vitamin D into the active ligand for the vitamin D ... Sex dependent expression differences in liver tissue from mice of the " ...
http://www.nextbio.com/b/home/home.nb?id=80549&type=feature
www.nextbio.com
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Duodenal calcium absorption in vitamin D receptor-knockout mice ...
Rickets and hyperparathyroidism caused by a defective vitamin D receptor (VDR) ... wild-type mice, a high calcium diet inhibited (>90%) and 1,25(OH)(2)D(3) ...
http://www.ncbi.nlm.nih.gov/pubmed/11687634
www.ncbi.nlm.nih.gov
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quick facts
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bone and mineral metabolism
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rare (U.S.)
likelihood by age
likelyhood by duration of symptoms
some common symptoms
abnormal postures of foot (feet)
delayed development
muscle weakness in arm(s)
muscle weakness in leg(s)
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Down's Syndrome
hereditary motor and sensory neuropathy 1-3
hereditary spastic paraplegia
Hartnup disease
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