Literature DB >> 4282260

Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.

R N Schimke, W A Horton, C R King, N L Martin.   

Abstract

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Year:  1974        PMID： 4282260

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  9 in total

1.  Anesthetic management of Schimke syndrome.

Authors:  Ciğdem Yıldırım Güçlü; Ozlem Selvi Can; Menekşe Ozçelik
Journal:  J Anesth       Date:  2014-01-29       Impact factor: 2.078

2.  Association of spondylo-epiphyseal dysplasia with nephrotic syndrome.

Authors:  J H Ehrich; G Offner; E Schirg; P F Hoyer; U Helmchen; J Brodehl
Journal:  Pediatr Nephrol       Date:  1990-03       Impact factor: 3.714

3.  Genetic heterogeneity within the chondroitinsulphaturias.

Authors:  B S Danes; B K Rottell; L Eviatar; J Stolzenberg
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

4.  Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.

Authors:  A Castriota-Scanderbeg; R Mingarelli; G Caramia; P Osimani; R S Lachman; D L Rimoin; W R Wilcox; B Dallapiccola
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

5.  Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.

Authors:  Thomas Lücke; Katja M Marwedel; Nele K Kanzelmeyer; Akira Hori; Gisela Offner; Hans-Heinrich Kreipe; Jochen H H Ehrich; Anibh M Das
Journal:  Pediatr Nephrol       Date:  2004-03-31       Impact factor: 3.714

6.  A case of craniomandibular dermatodysostosis associated with focal glomerulosclerosis.

Authors:  E Pedagogos; G Flanagan; D M Francis; G J Becker; D M Danks; R G Walker
Journal:  Pediatr Nephrol       Date:  1995-06       Impact factor: 3.714

7.  Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings.

Authors:  G Lama; N Marrone; M Majorana; F Cirillo; M E Salsano; M M Rinaldi
Journal:  Pediatr Nephrol       Date:  1995-02       Impact factor: 3.714

8.  Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Authors:  Carlos R Ferreira; Debra S Regier; Donald W Hadley; P Suzanne Hart; Maximilian Muenke
Journal:  Mol Genet Genomic Med       Date:  2017-07-16       Impact factor: 2.183

9.  Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.

Authors:  Cristina Bertulli; Antonio Marzollo; Margherita Doria; Silvia Di Cesare; Claudio La Scola; Francesca Mencarelli; Andrea Pasini; Maria Carmen Affinita; Enrico Vidal; Pamela Magini; Paola Dimartino; Riccardo Masetti; Laura Greco; Patrizia Palomba; Francesca Conti; Andra Pession
Journal:  Int J Mol Sci       Date:  2020-11-15       Impact factor: 5.923
  9 in total

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