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Pregled bibliografske jedinice broj: 589909

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency


Honzik, Tomas; Magner, Martin; Krijt, Jakub; Sokolova, Jitka; Vugrek, Oliver; Belužić, Robert; Barić, Ivo; Hansikova, Hana; Elleder, Milan; Vesela, Katerina et al.
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency // Molecular genetics and metabolism, 107 (2012), 3; 611-613 doi:10.1016/j.ymgme.2012.08.014 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 589909 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

Autori
Honzik, Tomas ; Magner, Martin ; Krijt, Jakub ; Sokolova, Jitka ; Vugrek, Oliver ; Belužić, Robert ; Barić, Ivo ; Hansikova, Hana ; Elleder, Milan ; Vesela, Katerina ; Bauerova, Lenka ; Ondruskova, Nina ; Jesina, Pavel ; Zeman, Jiri ; Kozich, Viktor

Izvornik
Molecular genetics and metabolism (1096-7192) 107 (2012), 3; 611-613

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
S-adenosylhomocysteine hydrolase; S-adenosylhomocysteine; S-adenosylmethionine; phosphomannomutase 2; congenital disorders of glycosylation

Sažetak
We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age. SAHH deficiency was confirmed at 4.5 years of age by showing decreased SAHH activity (11% in both erythrocytes and fibroblasts), and compound heterozygosity for a known mutation c.145C>T (p.R49C) and a novel variant c.211G>A (p.G71S) in the AHCY gene. Retrospective analysis of clinical features revealed striking similarities between SAHH deficiency and the PMM2-CDG Ia.

Izvorni jezik
Engleski



POVEZANOST RADA


Projekti:
098-0000000-2463 - Nedostatak Adenozilhomocistein hidrolaze: Molekularni mehanizmi novog oboljenja (Vugrek, Oliver, MZOS ) ( CroRIS)
IPA2007/HR/16IPO/001- 040305
108-10818701885

Ustanove:
Institut "Ruđer Bošković", Zagreb

Profili:

Avatar Url Oliver Vugrek (autor)

Avatar Url Ivo Barić (autor)

Avatar Url Robert Belužić (autor)

Poveznice na cjeloviti tekst rada:

doi www.sciencedirect.com

Citiraj ovu publikaciju:

Honzik, Tomas; Magner, Martin; Krijt, Jakub; Sokolova, Jitka; Vugrek, Oliver; Belužić, Robert; Barić, Ivo; Hansikova, Hana; Elleder, Milan; Vesela, Katerina et al.
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency // Molecular genetics and metabolism, 107 (2012), 3; 611-613 doi:10.1016/j.ymgme.2012.08.014 (međunarodna recenzija, članak, znanstveni)
Honzik, T., Magner, M., Krijt, J., Sokolova, J., Vugrek, O., Belužić, R., Barić, I., Hansikova, H., Elleder, M. & Vesela, K. (2012) Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. Molecular genetics and metabolism, 107 (3), 611-613 doi:10.1016/j.ymgme.2012.08.014.
@article{article, author = {Honzik, Tomas and Magner, Martin and Krijt, Jakub and Sokolova, Jitka and Vugrek, Oliver and Belu\v{z}i\'{c}, Robert and Bari\'{c}, Ivo and Hansikova, Hana and Elleder, Milan and Vesela, Katerina and Bauerova, Lenka and Ondruskova, Nina and Jesina, Pavel and Zeman, Jiri and Kozich, Viktor}, year = {2012}, pages = {611-613}, DOI = {10.1016/j.ymgme.2012.08.014}, keywords = {S-adenosylhomocysteine hydrolase, S-adenosylhomocysteine, S-adenosylmethionine, phosphomannomutase 2, congenital disorders of glycosylation}, journal = {Molecular genetics and metabolism}, doi = {10.1016/j.ymgme.2012.08.014}, volume = {107}, number = {3}, issn = {1096-7192}, title = {Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency}, keyword = {S-adenosylhomocysteine hydrolase, S-adenosylhomocysteine, S-adenosylmethionine, phosphomannomutase 2, congenital disorders of glycosylation} }
@article{article, author = {Honzik, Tomas and Magner, Martin and Krijt, Jakub and Sokolova, Jitka and Vugrek, Oliver and Belu\v{z}i\'{c}, Robert and Bari\'{c}, Ivo and Hansikova, Hana and Elleder, Milan and Vesela, Katerina and Bauerova, Lenka and Ondruskova, Nina and Jesina, Pavel and Zeman, Jiri and Kozich, Viktor}, year = {2012}, pages = {611-613}, DOI = {10.1016/j.ymgme.2012.08.014}, keywords = {S-adenosylhomocysteine hydrolase, S-adenosylhomocysteine, S-adenosylmethionine, phosphomannomutase 2, congenital disorders of glycosylation}, journal = {Molecular genetics and metabolism}, doi = {10.1016/j.ymgme.2012.08.014}, volume = {107}, number = {3}, issn = {1096-7192}, title = {Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency}, keyword = {S-adenosylhomocysteine hydrolase, S-adenosylhomocysteine, S-adenosylmethionine, phosphomannomutase 2, congenital disorders of glycosylation} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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