Barth syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Barth syndrome" in English language version.

refsWebsite

Global rank English rank

19nih.gov

4^th place

13doi.org

2^nd place

3semanticscholar.org

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3web.archive.org

1^st place

2barthsyndrome.org

low place

1medlineplus.gov

1,581^st place

1,299^th place

1orpha.net

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7,177^th place

1hopkinsmedicine.org

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3,986^th place

1harvard.edu

18^th place

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1worldcat.org

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1ufhealth.org

low place

barthsyndrome.org

Barth Syndrome Foundation, 28 Jun 2011. "Diagnosis of Barth Syndrome". Available from: "Barth Syndrome Foundation : Home". Archived from the original on 2012-04-26. Retrieved 2011-12-06.
"Barth Syndrome Foundation : Home". Archived from the original on 2009-09-23. Retrieved 2009-04-17.

doi.org

Claypool SM, Boontheung P, McCaffery JM, Loo JA, Koehler CM (December 2008). "The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome". Mol. Biol. Cell. 19 (12): 5143–55. doi:10.1091/mbc.E08-09-0896. PMC 2592642. PMID 18799610.
Spencer CT, Bryant RM, Day J, et al. (August 2006). "Cardiac and clinical phenotype in Barth syndrome". Pediatrics. 118 (2): e337–46. doi:10.1542/peds.2005-2667. PMID 16847078. S2CID 23163528.
Kelley RI, Cheatham JP, Clark BJ, et al. (November 1991). "X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria". The Journal of Pediatrics. 119 (5): 738–47. doi:10.1016/S0022-3476(05)80289-6. PMID 1719174.
Barth PG, Scholte HR, Berden JA, et al. (December 1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes". Journal of the Neurological Sciences. 62 (1–3): 327–55. doi:10.1016/0022-510X(83)90209-5. PMID 6142097. S2CID 22790290.
Schlame M, Kelley RI, Feigenbaum A, et al. (December 2003). "Phospholipid abnormalities in children with Barth syndrome". Journal of the American College of Cardiology. 42 (11): 1994–9. doi:10.1016/j.jacc.2003.06.015. PMID 14662265.
Vreken P, Valianpour F, Nijtmans LG, et al. (December 2000). "Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome". Biochemical and Biophysical Research Communications. 279 (2): 378–82. doi:10.1006/bbrc.2000.3952. PMID 11118295.
Steward CG, Newbury-Ecob RA, Hastings R, et al. (October 2010). "Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth". Prenat. Diagn. 30 (10): 970–6. doi:10.1002/pd.2599. PMC 2995309. PMID 20812380.
Kulik W, van Lenthe H, Stet FS, et al. (February 2008). "Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome". Clinical Chemistry. 54 (2): 371–8. doi:10.1373/clinchem.2007.095711. PMID 18070816.
Malhotra A, Edelman-Novemsky I, Xu Y, et al. (February 2009). "Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome". Proc. Natl. Acad. Sci. U.S.A. 106 (7): 2337–41. Bibcode:2009PNAS..106.2337M. doi:10.1073/pnas.0811224106. PMC 2650157. PMID 19164547.
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (April 1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome". Nature Genetics. 12 (4): 385–9. doi:10.1038/ng0496-385. PMID 8630491. S2CID 23539265.
Suzuki-Hatano, Silveli; Saha, Madhurima; Rizzo, Skylar A.; Witko, Rachael L.; Gosiker, Bennett J.; Ramanathan, Manashwi; Soustek, Meghan S.; Jones, Michael D.; Kang, Peter B. (2018-08-02). "AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome". Human Gene Therapy. 30 (2): 139–154. doi:10.1089/hum.2018.020. ISSN 1043-0342. PMC 6383582. PMID 30070157.
Cosson L, Toutain A, Simard G, Kulik W, Matyas G, Guichet A, Blasco H, Maakaroun-Vermesse Z, Vaillant MC, Le Caignec C, Chantepie A, Labarthe F (May 2012). "Barth syndrome in a female patient". Mol Genet Metab. 106 (1): 115–20. doi:10.1016/j.ymgme.2012.01.015. PMID 22410210.
Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG (September 1999). "Genetic analysis of the G4.5 gene in families with suspected Barth syndrome". The Journal of Pediatrics. 135 (3): 311–5. doi:10.1016/S0022-3476(99)70126-5. PMID 10484795.

harvard.edu

ui.adsabs.harvard.edu

Malhotra A, Edelman-Novemsky I, Xu Y, et al. (February 2009). "Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome". Proc. Natl. Acad. Sci. U.S.A. 106 (7): 2337–41. Bibcode:2009PNAS..106.2337M. doi:10.1073/pnas.0811224106. PMC 2650157. PMID 19164547.

hopkinsmedicine.org

Kelley RI, [cited 6 Dec 2011]. "Barth Syndrome - X-linked Cardiomyopathy and Neutropenia". Department of Pediatrics, Johns Hopkins Medical Institutions. Available from: "Barth Syndrome - X-linked Cardiomyopathy and Neutropenia". Archived from the original on 2004-12-14. Retrieved 2004-12-19.

medlineplus.gov

"Barth syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-08-13.

nih.gov

pubmed.ncbi.nlm.nih.gov

Claypool SM, Boontheung P, McCaffery JM, Loo JA, Koehler CM (December 2008). "The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome". Mol. Biol. Cell. 19 (12): 5143–55. doi:10.1091/mbc.E08-09-0896. PMC 2592642. PMID 18799610.
Spencer CT, Bryant RM, Day J, et al. (August 2006). "Cardiac and clinical phenotype in Barth syndrome". Pediatrics. 118 (2): e337–46. doi:10.1542/peds.2005-2667. PMID 16847078. S2CID 23163528.
Kelley RI, Cheatham JP, Clark BJ, et al. (November 1991). "X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria". The Journal of Pediatrics. 119 (5): 738–47. doi:10.1016/S0022-3476(05)80289-6. PMID 1719174.
Barth PG, Scholte HR, Berden JA, et al. (December 1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes". Journal of the Neurological Sciences. 62 (1–3): 327–55. doi:10.1016/0022-510X(83)90209-5. PMID 6142097. S2CID 22790290.
Schlame M, Kelley RI, Feigenbaum A, et al. (December 2003). "Phospholipid abnormalities in children with Barth syndrome". Journal of the American College of Cardiology. 42 (11): 1994–9. doi:10.1016/j.jacc.2003.06.015. PMID 14662265.
Vreken P, Valianpour F, Nijtmans LG, et al. (December 2000). "Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome". Biochemical and Biophysical Research Communications. 279 (2): 378–82. doi:10.1006/bbrc.2000.3952. PMID 11118295.
Steward CG, Newbury-Ecob RA, Hastings R, et al. (October 2010). "Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth". Prenat. Diagn. 30 (10): 970–6. doi:10.1002/pd.2599. PMC 2995309. PMID 20812380.
Kulik W, van Lenthe H, Stet FS, et al. (February 2008). "Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome". Clinical Chemistry. 54 (2): 371–8. doi:10.1373/clinchem.2007.095711. PMID 18070816.
Malhotra A, Edelman-Novemsky I, Xu Y, et al. (February 2009). "Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome". Proc. Natl. Acad. Sci. U.S.A. 106 (7): 2337–41. Bibcode:2009PNAS..106.2337M. doi:10.1073/pnas.0811224106. PMC 2650157. PMID 19164547.
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (April 1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome". Nature Genetics. 12 (4): 385–9. doi:10.1038/ng0496-385. PMID 8630491. S2CID 23539265.
Ferreira, Carlos; Pierre, Germaine; Thompson, Reid; Vernon, Hilary (July 9, 2020). "Barth Syndrome". University of Washington, Seattle. PMID 25299040. Retrieved November 28, 2023.
Suzuki-Hatano, Silveli; Saha, Madhurima; Rizzo, Skylar A.; Witko, Rachael L.; Gosiker, Bennett J.; Ramanathan, Manashwi; Soustek, Meghan S.; Jones, Michael D.; Kang, Peter B. (2018-08-02). "AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome". Human Gene Therapy. 30 (2): 139–154. doi:10.1089/hum.2018.020. ISSN 1043-0342. PMC 6383582. PMID 30070157.
Cosson L, Toutain A, Simard G, Kulik W, Matyas G, Guichet A, Blasco H, Maakaroun-Vermesse Z, Vaillant MC, Le Caignec C, Chantepie A, Labarthe F (May 2012). "Barth syndrome in a female patient". Mol Genet Metab. 106 (1): 115–20. doi:10.1016/j.ymgme.2012.01.015. PMID 22410210.
Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG (September 1999). "Genetic analysis of the G4.5 gene in families with suspected Barth syndrome". The Journal of Pediatrics. 135 (3): 311–5. doi:10.1016/S0022-3476(99)70126-5. PMID 10484795.

ncbi.nlm.nih.gov

Claypool SM, Boontheung P, McCaffery JM, Loo JA, Koehler CM (December 2008). "The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome". Mol. Biol. Cell. 19 (12): 5143–55. doi:10.1091/mbc.E08-09-0896. PMC 2592642. PMID 18799610.
Steward CG, Newbury-Ecob RA, Hastings R, et al. (October 2010). "Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth". Prenat. Diagn. 30 (10): 970–6. doi:10.1002/pd.2599. PMC 2995309. PMID 20812380.
Malhotra A, Edelman-Novemsky I, Xu Y, et al. (February 2009). "Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome". Proc. Natl. Acad. Sci. U.S.A. 106 (7): 2337–41. Bibcode:2009PNAS..106.2337M. doi:10.1073/pnas.0811224106. PMC 2650157. PMID 19164547.
Ferreira, Carlos; Pierre, Germaine; Thompson, Reid; Vernon, Hilary (July 9, 2020). "Barth Syndrome". University of Washington, Seattle. PMID 25299040. Retrieved November 28, 2023.
Suzuki-Hatano, Silveli; Saha, Madhurima; Rizzo, Skylar A.; Witko, Rachael L.; Gosiker, Bennett J.; Ramanathan, Manashwi; Soustek, Meghan S.; Jones, Michael D.; Kang, Peter B. (2018-08-02). "AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome". Human Gene Therapy. 30 (2): 139–154. doi:10.1089/hum.2018.020. ISSN 1043-0342. PMC 6383582. PMID 30070157.

orpha.net

"Orphanet: Barth syndrome". orpha.net. Retrieved 2023-08-13.

semanticscholar.org

api.semanticscholar.org

Spencer CT, Bryant RM, Day J, et al. (August 2006). "Cardiac and clinical phenotype in Barth syndrome". Pediatrics. 118 (2): e337–46. doi:10.1542/peds.2005-2667. PMID 16847078. S2CID 23163528.
Barth PG, Scholte HR, Berden JA, et al. (December 1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes". Journal of the Neurological Sciences. 62 (1–3): 327–55. doi:10.1016/0022-510X(83)90209-5. PMID 6142097. S2CID 22790290.
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (April 1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome". Nature Genetics. 12 (4): 385–9. doi:10.1038/ng0496-385. PMID 8630491. S2CID 23539265.

ufhealth.org

"Gene therapy for heart, skeletal muscle disorder shows promise in preclinical model | UF Health, University of Florida Health". 13 December 2018.

web.archive.org

Kelley RI, [cited 6 Dec 2011]. "Barth Syndrome - X-linked Cardiomyopathy and Neutropenia". Department of Pediatrics, Johns Hopkins Medical Institutions. Available from: "Barth Syndrome - X-linked Cardiomyopathy and Neutropenia". Archived from the original on 2004-12-14. Retrieved 2004-12-19.
Barth Syndrome Foundation, 28 Jun 2011. "Diagnosis of Barth Syndrome". Available from: "Barth Syndrome Foundation : Home". Archived from the original on 2012-04-26. Retrieved 2011-12-06.
"Barth Syndrome Foundation : Home". Archived from the original on 2009-09-23. Retrieved 2009-04-17.

worldcat.org

search.worldcat.org

Suzuki-Hatano, Silveli; Saha, Madhurima; Rizzo, Skylar A.; Witko, Rachael L.; Gosiker, Bennett J.; Ramanathan, Manashwi; Soustek, Meghan S.; Jones, Michael D.; Kang, Peter B. (2018-08-02). "AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome". Human Gene Therapy. 30 (2): 139–154. doi:10.1089/hum.2018.020. ISSN 1043-0342. PMC 6383582. PMID 30070157.