Literature DB >> 21032395

Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

H V Dyggve, J C Melchior, J Clausen.   

Abstract

Entities:  

Year:  1962        PMID： 21032395      PMCID： PMC2012915          DOI： 10.1136/adc.37.195.525

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


× No keyword cloud information.
  15 in total

1.  Some recent methods for fractionation of proteins employed in diagnostic examination of cerebrospinal fluid. Agar-gel micro-electrophoresis and immuno-electrophoresis.

Authors:  J CLAUSEN
Journal:  Dan Med Bull       Date:  1962-03

2.  Studies on the biochemistry of connective tissue.

Authors:  A DORFMAN
Journal:  Pediatrics       Date:  1958-09       Impact factor: 7.124

3.  Osteochondrodystrophy (Morquio-Brailsford type); occurrence in three siblings.

Authors:  R SMITH; J J McCORT
Journal:  Calif Med       Date:  1958-01

4.  Morquio's disease.

Authors:  M ROBINOW
Journal:  Clin Orthop       Date:  1958

5.  [Polytope hereditary enchondral dysostosis].

Authors:  W HOCHHEIM; H KORNER; S LIEBE
Journal:  Arch Orthop Unfallchir       Date:  1955

6.  [On differentiating dysostosis Morquio from gargoylism as an independent disease].

Authors:  K EICHENBERGER
Journal:  Ann Paediatr       Date:  1954-02

7.  A report of seven cases of chondro-osteo-dystrophy (Morquio's disease).

Authors:  W F TOWNSEND-COLES
Journal:  Arch Dis Child       Date:  1954-02       Impact factor: 3.791

8.  [Extensive and generally hereditary development and growth defects of the skeleton].

Authors: 
Journal:  Monatsschr Kinderheilkd       Date:  1954-02

9.  [Morquio's disease; a review of the literature with a description of four cases].

Authors:  J D WHITESIDE; J A CHOLMELEY
Journal:  Arch Dis Child       Date:  1952-10       Impact factor: 3.791

10.  A Rare Disease in Two Brothers.

Authors:  C Hunter
Journal:  Proc R Soc Med       Date:  1917
View more
  13 in total

1.  Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Authors:  J Spranger; B Bierbaum; J Herrmann
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

2.  A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils.

Authors:  P H Byers; K A Holbrook; J G Hall; P Bornstein; J W Chandler
Journal:  Hum Genet       Date:  1978-01-19       Impact factor: 4.132

3.  Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Authors:  Ola Khalifa; Faiqa Imtiaz; Nadia Al-Sakati; Khalid Al-Manea; Alain Verloes; Mohammed Al-Owain
Journal:  Eur J Pediatr       Date:  2010-09-24       Impact factor: 3.183

4.  Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Authors:  Nadia Ehtesham; Rita M Cantor; Lily M King; Kent Reinker; Berkley R Powell; Alan Shanske; Sheila Unger; David L Rimoin; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2002-08-02       Impact factor: 11.025

5.  Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Authors:  Daniel H Cohn; Nadia Ehtesham; Deborah Krakow; Sheila Unger; Alan Shanske; Kent Reinker; Berkley R Powell; David L Rimoin
Journal:  Am J Hum Genet       Date:  2002-12-16       Impact factor: 11.025

6.  Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.

Authors:  R A Roesel; J E Carroll; W B Rizzo; T van der Zalm; D A Hahn
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

7.  Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

Authors:  Mona S Aglan; Samia A Temtamy; Ekram Fateen; Adel M Ashour; Khamis Eldeeb; Gamal A Hosny
Journal:  J Child Orthop       Date:  2009-10-09       Impact factor: 1.548

Review 8.  Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.

Authors:  Hira Peracha; Kazuki Sawamoto; Lauren Averill; Heidi Kecskemethy; Mary Theroux; Mihir Thacker; Kyoko Nagao; Christian Pizarro; William Mackenzie; Hironori Kobayashi; Seiji Yamaguchi; Yasuyuki Suzuki; Kenji Orii; Tadao Orii; Toshiyuki Fukao; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2018-05-15       Impact factor: 4.797

9.  Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.

Authors:  Vladimir Kenis; Alexey Baindurashvili; Evgeniy Melchenko; Franz Grill; Ali Al Kaissi
Journal:  Ger Med Sci       Date:  2011-09-20

10.  Diagnosing mucopolysaccharidosis IVA.

Authors:  Timothy C Wood; Katie Harvey; Michael Beck; Maira Graeff Burin; Yin-Hsiu Chien; Heather J Church; Vânia D'Almeida; Otto P van Diggelen; Michael Fietz; Roberto Giugliani; Paul Harmatz; Sara M Hawley; Wuh-Liang Hwu; David Ketteridge; Zoltan Lukacs; Nicole Miller; Marzia Pasquali; Andrea Schenone; Jerry N Thompson; Karen Tylee; Chunli Yu; Christian J Hendriksz
Journal:  J Inherit Metab Dis       Date:  2013-02-01       Impact factor: 4.982
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.