Literature DB >> 11757590

Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis.

J A Hochman1, W R Treem, F Dougherty, R C Bentley.   

Abstract

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Year:  2001        PMID： 11757590     DOI： 10.1023/a:1012428113606

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


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  3 in total

1.  Biochemical improvement after treatment by bone marrow transplantation in I-cell disease.

Authors:  I Kurobane; S Inoue; Y Gotoh; S Kato; M Tamura; K Narisawa; K Tada
Journal:  Tohoku J Exp Med       Date:  1986-09       Impact factor: 1.848

2.  I-cell disease. A case report and review of the literature.

Authors:  M Kamiya; T Tada; H Kuhara; H Kishimoto; Y Wada; Y Hashizume; T Wakabayashi
Journal:  Acta Pathol Jpn       Date:  1986-11

3.  Hepatic ultrastructure and histochemistry in mucolipidosis II (I-cell disease).

Authors:  K R Kenyon; J A Sensenbrenner; R G Wyllie
Journal:  Pediatr Res       Date:  1973-06       Impact factor: 3.756
  3 in total
  4 in total

Review 1.  Lysosomal storage disorders in the newborn.

Authors:  Orna Staretz-Chacham; Tess C Lang; Mary E LaMarca; Donna Krasnewich; Ellen Sidransky
Journal:  Pediatrics       Date:  2009-04       Impact factor: 7.124

2.  Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesis.

Authors:  Eline van Meel; Marielle Boonen; Haibo Zhao; Viola Oorschot; F Patrick Ross; Stuart Kornfeld; Judith Klumperman
Journal:  Traffic       Date:  2011-05-05       Impact factor: 6.215

3.  Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

Authors:  Sheila Unger; David A Paul; Michelle C Nino; Charles P McKay; Stephen Miller; Etienne Sochett; Nancy Braverman; Joe T R Clarke; David E C Cole; Andrea Superti-Furga
Journal:  Eur J Pediatr       Date:  2004-12-03       Impact factor: 3.183

4.  A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking.

Authors:  Thomas Capobres; Gauravi Sabharwal; Brent Griffith
Journal:  BJR Case Rep       Date:  2016-07-28
  4 in total

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