Literature DB >> 28871878

Premature Identical Twin Neonates With Sleep Apnea.

Anirudh Ramesh1, Johanna Diaz1, Lawrence Nogee1, Jessica Duis2, Dae Song Jang3, Cathleen Lawson1, Gustavo Maegawa2.   

Abstract

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Year:  2017        PMID： 28871878      PMCID： PMC5704958          DOI： 10.1177/0009922817698810

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN： 0009-9228            Impact factor:   1.168


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  11 in total

Review 1.  Type 2 gaucher disease: an expanding phenotype.

Authors:  N Tayebi; D L Stone; E Sidransky
Journal:  Mol Genet Metab       Date:  1999-10       Impact factor: 4.797

2.  Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Authors:  Thomas P Mechtler; Susanne Stary; Thomas F Metz; Víctor R De Jesús; Susanne Greber-Platzer; Arnold Pollak; Kurt R Herkner; Berthold Streubel; David C Kasper
Journal:  Lancet       Date:  2011-11-29       Impact factor: 79.321

3.  Collodion babies with Gaucher's disease--a further case.

Authors:  A H Lipson; M Rogers; A Berry
Journal:  Arch Dis Child       Date:  1991-05       Impact factor: 3.791

4.  Phenotype, diagnosis, and treatment of Gaucher's disease.

Authors:  Gregory A Grabowski
Journal:  Lancet       Date:  2008-10-04       Impact factor: 79.321

5.  Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1.

Authors:  Yaolin Zhou; Ryan R Kraemer; Deniz Peker; Dara N Wakefield; Diego A de Idiaquez Bakula
Journal:  Am J Hematol       Date:  2013-08-01       Impact factor: 10.047

Review 6.  Understanding the natural history of Gaucher disease.

Authors:  Pramod K Mistry; Nadia Belmatoug; Stephan vom Dahl; Roberto Giugliani
Journal:  Am J Hematol       Date:  2015-07       Impact factor: 10.047

7.  Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.

Authors:  A J Sarria; P Giraldo; J I Perez-Calvo; M Pocoví
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

8.  High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.

Authors:  R Rozenberg; F T Araújo; D C Fox; P Aranda; A Nonino; C Micheletti; A M Martins; R Cravo; E Sobreira; L V Pereira
Journal:  Braz J Med Biol Res       Date:  2006-09       Impact factor: 2.590

Review 9.  Discrepancies between genotype and phenotype in hematology: an important frontier.

Authors:  E Beutler
Journal:  Blood       Date:  2001-11-01       Impact factor: 22.113

10.  Prevalence of lysosomal storage disorders.

Authors:  P J Meikle; J J Hopwood; A E Clague; W F Carey
Journal:  JAMA       Date:  1999-01-20       Impact factor: 56.272
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