Literature DB >> 18110134

Hypophosphatasia; a new developmental anomaly.

J C RATHBUN.   

Abstract

Entities:  

Keywords:  PHOSPHORUS AND PHOSPHORUS COMPOUNDS

Mesh：

Substances：

Year:  1948        PMID： 18110134     DOI： 10.1001/archpedi.1948.02030020840003

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0096-8994


× No keyword cloud information.
  50 in total

1.  Prenatal detection of hypophosphatasia: cytological and genetic considerations.

Authors:  K Blau; J M Rattenbury; J Pryse-Davies; P Clark; M Sandler
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

Review 2.  INHERITED ENZYME DEFECTS: A REVIEW.

Authors:  T HARGREAVES
Journal:  J Clin Pathol       Date:  1963-07       Impact factor: 3.411

3.  [Congenital metabolic disorders].

Authors:  K SCHREIER
Journal:  Klin Wochenschr       Date:  1953-08-15

4.  Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.

Authors:  M Shohat; D L Rimoin; H E Gruber; R S Lachman
Journal:  Pediatr Radiol       Date:  1991

5.  [Advances in the recognition of heterozygous characteristics in hereditary enzymopathies].

Authors:  F LINNEWEH
Journal:  Klin Wochenschr       Date:  1962-06-01

6.  [Alkaline phosphatase in the biology of osseous tissue; histochemical investigations].

Authors:  G MAJNO; C ROUILLER
Journal:  Virchows Arch Pathol Anat Physiol Klin Med       Date:  1951-11

7.  [Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].

Authors:  Deng-Feng Li; Dan Lan; Jing-Zi Zhong; Roma Kajal Dewan; Yan-Shu Xie; Ying Yang
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-05

8.  Hypophosphatasia with phenylketonuria.

Authors:  M E Blaskovics; K N Shaw
Journal:  Z Kinderheilkd       Date:  1974

9.  Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl.

Authors:  Ismail Uras; Nurdan Uras; Ahmet Karadag; Osman Yuksel Yavuz; Hakan Atalar
Journal:  Korean J Radiol       Date:  2005 Jan-Mar       Impact factor: 3.500

10.  Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.

Authors:  Dina Belachew; Traci Kazmerski; Ingrid Libman; Amy C Goldstein; Susan T Stevens; Stephanie Deward; Jerry Vockley; Mark A Sperling; Arcangela L Balest
Journal:  JIMD Rep       Date:  2013-03-12
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.