Literature DB >> 10070624

Aplastic anaemia in association with Kearns-Sayre syndrome.

T F Leung1, J Hui, E Shoubridge, C K Li, K W Chik, M M Shing, G W Wong, W L Yeung, P M Yuen.   

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Year:  1999        PMID： 10070624     DOI： 10.1023/a:1005415802893

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

Review 1.  Deletions of the mitochondrial genome.

Authors:  A E Harding; S R Hammans
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; N Gazzah; M C Juge; P G Pentchev; A Revol; P Louisot
Journal:  Biochim Biophys Acta       Date:  1991-06-05

Review 3.  Protean manifestations of mitochondrial diseases: a minireview.

Authors:  D S Kerr
Journal:  J Pediatr Hematol Oncol       Date:  1997 Jul-Aug       Impact factor: 1.289

Review 4.  Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; S Duthel; K Harzer; P G Pentchev; A Revol; P Louisot
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

5.  Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Authors:  E D Carstea; J A Morris; K G Coleman; S K Loftus; D Zhang; C Cummings; J Gu; M A Rosenfeld; W J Pavan; D B Krizman; J Nagle; M H Polymeropoulos; S L Sturley; Y A Ioannou; M E Higgins; M Comly; A Cooney; A Brown; C R Kaneski; E J Blanchette-Mackie; N K Dwyer; E B Neufeld; T Y Chang; L Liscum; J F Strauss; K Ohno; M Zeigler; R Carmi; J Sokol; D Markie; R R O'Neill; O P van Diggelen; M Elleder; M C Patterson; R O Brady; M T Vanier; P G Pentchev; D A Tagle
Journal:  Science       Date:  1997-07-11       Impact factor: 47.728

6.  Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

Authors:  S J Steinberg; C P Ward; A H Fensom
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

Review 7.  Recent advances in elucidating Niemann-Pick C disease.

Authors:  M T Vanier; K Suzuki
Journal:  Brain Pathol       Date:  1998-01       Impact factor: 6.508

8.  Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

Authors:  M T Vanier; S Duthel; C Rodriguez-Lafrasse; P Pentchev; E D Carstea
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

Review 9.  Niemann-Pick disease type C: an update.

Authors:  M T Vanier; P Pentchev; C Rodriguez-Lafrasse; R Rousson
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  9 in total
  2 in total

1.  Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome.

Authors:  Xiaoshan Zhou; Magnus Johansson; Nicola Solaroli; Björn Rozell; Alf Grandien; Anna Karlsson
Journal:  J Inherit Metab Dis       Date:  2010-05-04       Impact factor: 4.982

2.  Haematological abnormalities in mitochondrial disorders.

Authors:  Josef Finsterer; Marlies Frank
Journal:  Singapore Med J       Date:  2015-07       Impact factor: 1.858
  2 in total

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