Literature DB >> 19006216

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.

Despina Contopoulos-Ioannidis1, Athanasios Evangeliou, Henk ter Laak, Bert de Vries, Rolph Pfundt, Hans Scheffer, Jan Smeitink, Meropi Tzoufi, Alexandros Makis, Evangelos Marinos, Richard Hess, David Adams, Marjan Huizing, Eva Morava.   

Abstract

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Year:  2008        PMID： 19006216      PMCID： PMC2615100          DOI： 10.1002/ajmg.a.32569

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  19 in total

1.  P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.

Authors:  N A Garrison; Z Yi; O Cohen-Barak; M Huizing; L M Hartnell; W A Gahl; M H Brilliant
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

Review 2.  The building BLOC(k)s of lysosomes and related organelles.

Authors:  Esteban C Dell'Angelica
Journal:  Curr Opin Cell Biol       Date:  2004-08       Impact factor: 8.382

3.  Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Authors:  Marjan Huizing; Charles D Scher; Erin Strovel; Diana L Fitzpatrick; Lisa M Hartnell; Yair Anikster; William A Gahl
Journal:  Pediatr Res       Date:  2002-02       Impact factor: 3.756

Review 4.  Malignant hyperthermia.

Authors:  D H MacLennan; M S Phillips
Journal:  Science       Date:  1992-05-08       Impact factor: 47.728

5.  Myospryn is a novel binding partner for dysbindin in muscle.

Authors:  Matthew A Benson; Caroline L Tinsley; Derek J Blake
Journal:  J Biol Chem       Date:  2003-12-19       Impact factor: 5.157

Review 6.  Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.

Authors:  M Huizing; W A Gahl
Journal:  Curr Mol Med       Date:  2002-08       Impact factor: 2.222

Review 7.  Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.

Authors:  Wei Li; Michael E Rusiniak; Sreenivasulu Chintala; Rashi Gautam; Edward K Novak; Richard T Swank
Journal:  Bioessays       Date:  2004-06       Impact factor: 4.345

8.  Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

Authors:  Richard A King; Jacy Pietsch; James P Fryer; Sarah Savage; Marcia J Brott; Isabelle Russell-Eggitt; C Gail Summers; William S Oetting
Journal:  Hum Genet       Date:  2003-09-10       Impact factor: 4.132

9.  Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

Authors:  Wei Li; Qing Zhang; Naoki Oiso; Edward K Novak; Rashi Gautam; Edward P O'Brien; Caroline L Tinsley; Derek J Blake; Richard A Spritz; Neal G Copeland; Nancy A Jenkins; Dominick Amato; Bruce A Roe; Marta Starcevic; Esteban C Dell'Angelica; Rosemary W Elliott; Vishnu Mishra; Stephen F Kingsmore; Richard E Paylor; Richard T Swank
Journal:  Nat Genet       Date:  2003-08-17       Impact factor: 38.330

Review 10.  Central core disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-05-15       Impact factor: 4.123
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