Literature DB >> 17594400

Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation.

A A Yamak, F Bitar, P Karam, G Nemer.   

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Year:  2007        PMID: 17594400     DOI: 10.1111/j.1399-0004.2007.00814.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  7 in total

Review 1.  Lipid storage myopathy.

Authors:  Wen-Chen Liang; Ichizo Nishino
Journal:  Curr Neurol Neurosci Rep       Date:  2011-02       Impact factor: 5.081

2.  Dilated Cardiomyopathy as the Only Clinical Manifestation of Carnitine Transporter Deficiency.

Authors:  Kyriaki Papadopoulou-Legbelou; Maria Gogou; Vaia Dokousli; Maria Eboriadou; Athanasios Evangeliou
Journal:  Indian J Pediatr       Date:  2016-11-03       Impact factor: 1.967

3.  Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.

Authors:  Jan Rasmussen; Lars Køber; Allan M Lund; Olav W Nielsen
Journal:  J Inherit Metab Dis       Date:  2013-08-21       Impact factor: 4.982

Review 4.  State of the art in muscle lipid diseases.

Authors:  W C Liang; I Nishino
Journal:  Acta Myol       Date:  2010-10

Review 5.  Primary carnitine deficiency and cardiomyopathy.

Authors:  Lijun Fu; Meirong Huang; Shubao Chen
Journal:  Korean Circ J       Date:  2013-12       Impact factor: 3.243

6.  Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.

Authors:  Marwan M Refaat; Sylvana Hassanieh; Jad A Ballout; Patrick Zakka; Mostafa Hotait; Athar Khalil; Fadi Bitar; Mariam Arabi; Samir Arnaout; Hadi Skouri; Antoine Abchee; Bernard Abi-Saleh; Maurice Khoury; Andreas Massouras; Georges Nemer
Journal:  BMC Med Genomics       Date:  2019-02-14       Impact factor: 3.063

7.  Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.

Authors:  Zahi Abdul-Sater; Amin Yehya; Jean Beresian; Elie Salem; Amina Kamar; Serine Baydoun; Kamel Shibbani; Ayman Soubra; Fadi Bitar; Georges Nemer
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240

  7 in total

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