Literature DB >> 25900839

Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome.

Claire Gaffney1, Paul McNally1.   

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Year:  2015        PMID： 25900839     DOI： 10.1002/ajmg.a.37034

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


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  4 in total

Review 1.  Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

Authors:  Kimberly Goodspeed; Cassandra Newsom; Mary Ann Morris; Craig Powell; Patricia Evans; Sailaja Golla
Journal:  J Child Neurol       Date:  2018-01-10       Impact factor: 1.987

Review 2.  Evaluation of Nav1.8 as a therapeutic target for Pitt Hopkins Syndrome.

Authors:  Keri Martinowich; Debamitra Das; Srinidhi Rao Sripathy; Yishan Mai; Rakaia F Kenney; Brady J Maher
Journal:  Mol Psychiatry       Date:  2022-10-12       Impact factor: 13.437

3.  A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome.

Authors:  Megan Bone; Kimberly Goodspeed
Journal:  Child Neurol Open       Date:  2022-04-13

4.  A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.

Authors:  Syuan-Yu Hong; I-Ching Chou; Wei-De Lin; Fuu-Jen Tsai
Journal:  Biomedicine (Taipei)       Date:  2016-11-19
  4 in total

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