低磷性非佝偻病性骨病：一种在肾脏缺陷、骨骼受累及遗传方面与X连锁低磷血症不同的疾病实体。 - Suppr

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超能文献

Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance.

作者信息

Scriver C R, MacDonald W, Reade T, Glorieux R H, Nogrady B

出版信息

Am J Med Genet. 1977;1(1):101-17. doi: 10.1002/ajmg.1320010111.

DOI:10.1002/ajmg.1320010111

PMID:610422

Abstract

摘要

相似文献

Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance.低磷性非佝偻病性骨病：一种在肾脏缺陷、骨骼受累及遗传方面与X连锁低磷血症不同的疾病实体。

Am J Med Genet. 1977;1(1):101-17. doi: 10.1002/ajmg.1320010111.

[Familial hypophosphatemia].[家族性低磷血症]

Wien Klin Wochenschr. 1990 May 11;102(10):303-6.

Familial X-linked dominant hypophosphatemic vitamin D refractory rickets--a family study.

J Assoc Physicians India. 1982 May;30(5):323-5.

[Scriver type autosomal hypophosphatemic rachitis: a family case].[书写型常染色体低磷性佝偻病：一例家族病例]

Pediatrie. 1987;42(7):563-8.

[Hypophosphatemia of a genetic origin].[遗传性低磷血症]

Nephrologie. 1992;13(3):115-21.

Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse.人类中两种X连锁低磷血症形式的听力测定证据，明显对应于小鼠中的Hyp和Gy突变。

Am J Med Genet. 1987 Aug;27(4):997-1003. doi: 10.1002/ajmg.1320270434.

Picture of the month. X-linked dominant hypophosphatemic rickets.本月病例图片。X连锁显性低磷性佝偻病。

Am J Dis Child. 1988 Feb;142(2):191-2.

X-linked hypophosphatemia.X连锁低磷血症

Semin Nephrol. 1989 Mar;9(1):56-61.

Metacarpal measurements in X-linked hypophosphataemic rickets.X连锁低磷性佝偻病的掌骨测量

Helv Paediatr Acta. 1986 Oct;41(4):331-8.

[Hypophosphatemia, non X-linked, X-linked].[低磷血症，非X连锁，X连锁]

Ryoikibetsu Shokogun Shirizu. 2001(33):860-2.

引用本文的文献

Hypophosphatemic rickets.低磷性佝偻病

Rev Endocr Metab Disord. 2001 Apr;2(2):165-73. doi: 10.1023/a:1010054727323.

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.常染色体显性低磷性佝偻病与12号染色体短臂13区相关联。

J Clin Invest. 1997 Dec 1;100(11):2653-7. doi: 10.1172/JCI119809.

Family investigations in idiopathic hypercalciuria.

Eur J Pediatr. 1993 Jan;152(1):64-8. doi: 10.1007/BF02072519.

Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3.常染色体性低磷性骨病对1,25 -（OH）2D3有反应。

Arch Dis Child. 1981 Mar;56(3):203-7. doi: 10.1136/adc.56.3.203.

Renal ultrasound in metabolic bone disease.代谢性骨病中的肾脏超声检查。

Pediatr Radiol. 1986;16(2):135-9. doi: 10.1007/BF02386638.

Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria.常染色体显性低磷血症伴血清1,25-二羟维生素D升高及高钙尿症。

Pediatr Nephrol. 1987 Jul;1(3):479-84. doi: 10.1007/BF00849257.

What is the risk of a lady with familial hypophosphatemic rickets having affected children and grandchildren.

Pediatr Nephrol. 1989 Oct;3(4):472. doi: 10.1007/BF00850233.

X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney.X连锁低磷血症：突变基因在牙齿和肾脏中均有表达。

Am J Hum Genet. 1990 Mar;46(3):434-42.

X-linked hypophosphatemic rickets without "rickets".无“佝偻病”表现的X连锁低磷性佝偻病

Skeletal Radiol. 1991;20(2):109-14. doi: 10.1007/BF00193821.

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