Literature DB >> 25846890

Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.

Toshiaki Hitomi1, Norio Matsuura, Yosuke Shigematsu, Yoshiyuki Okano, Eri Shinozaki, Masahiko Kawai, Hatasu Kobayashi, Kouji H Harada, Akio Koizumi.   

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Year:  2015        PMID： 25846890     DOI： 10.1007/s12041-015-0486-0

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  11 in total

1.  OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?

Authors:  A-M Lamhonwah; R Onizuka; S E Olpin; F Muntoni; I Tein
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

2.  Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.

Authors:  A Koizumi; J Nozaki; T Ohura; T Kayo; Y Wada; J Nezu; R Ohashi; I Tamai; Y Shoji; G Takada; S Kibira; T Matsuishi; A Tsuji
Journal:  Hum Mol Genet       Date:  1999-11       Impact factor: 6.150

3.  Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.

Authors:  B O Eriksson; S Lindstedt; I Nordin
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

4.  Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts.

Authors:  W R Treem; C A Stanley; D N Finegold; D E Hale; P M Coates
Journal:  N Engl J Med       Date:  1988-11-17       Impact factor: 91.245

5.  Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.

Authors:  N L Tang; V Ganapathy; X Wu; J Hui; P Seth; P M Yuen; R J Wanders; T F Fok; N M Hjelm
Journal:  Hum Mol Genet       Date:  1999-04       Impact factor: 6.150

6.  Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

Authors:  Ni-Chung Lee; Nelson Leung-Sang Tang; Yin-Hsiu Chien; Chun-An Chen; Sho-Juan Lin; Pao-Chin Chiu; Ai-Chu Huang; Wuh-Liang Hwu
Journal:  Mol Genet Metab       Date:  2009-12-28       Impact factor: 4.797

7.  Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.

Authors:  P R Chapoy; C Angelini; W J Brown; J E Stiff; A L Shug; S D Cederbaum
Journal:  N Engl J Med       Date:  1980-12-11       Impact factor: 91.245

8.  Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

Authors:  Anne-Marie Lamhonwah; Simon E Olpin; Rodney J Pollitt; Christine Vianey-Saban; Priscille Divry; Nathalie Guffon; Guy T N Besley; Russell Onizuka; Linda J De Meirleir; Ljerka Cvitanovic-Sojat; Ivo Baric; Carlo Dionisi-Vici; Ksenija Fumic; Miljenka Maradin; Ingrid Tein
Journal:  Am J Med Genet       Date:  2002-08-15

9.  Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.

Authors:  J Nezu; I Tamai; A Oku; R Ohashi; H Yabuuchi; N Hashimoto; H Nikaido; Y Sai; A Koizumi; Y Shoji; G Takada; T Matsuishi; M Yoshino; H Kato; T Ohura; G Tsujimoto; J Hayakawa; M Shimane; A Tsuji
Journal:  Nat Genet       Date:  1999-01       Impact factor: 38.330

Review 10.  Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.

Authors:  Pilar L Magoulas; Ayman W El-Hattab
Journal:  Orphanet J Rare Dis       Date:  2012-09-18       Impact factor: 4.123
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