Literature DB >> 7707706

Pyridoxine-responsive homocystinuria with ruptured sinus of Valsalva in a Chinese boy.

J W Hou1, T R Wang.   

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Year:  1994        PMID： 7707706     DOI： 10.1007/bf00712025

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  1 in total

1.  Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.

Authors:  G Gaull; J A Sturman; F Schaffner
Journal:  J Pediatr       Date:  1974-03       Impact factor: 4.406
  1 in total
  1 in total

Review 1.  Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Authors:  Andrew A M Morris; Viktor Kožich; Saikat Santra; Generoso Andria; Tawfeg I M Ben-Omran; Anupam B Chakrapani; Ellen Crushell; Mick J Henderson; Michel Hochuli; Martina Huemer; Miriam C H Janssen; Francois Maillot; Philip D Mayne; Jenny McNulty; Tara M Morrison; Helene Ogier; Siobhan O'Sullivan; Markéta Pavlíková; Isabel Tavares de Almeida; Allyson Terry; Sufin Yap; Henk J Blom; Kimberly A Chapman
Journal:  J Inherit Metab Dis       Date:  2016-10-24       Impact factor: 4.982
  1 in total

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