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Peripheral nerve involvement in classic homocystinuria: an unusual association

Classic homocystinuria is one of the most common causes of hereditary hyperhomocysteinemia. It is an autosomal recessive and multisystemic disorder due to cystathionine β-synthase deficiency. We described a case of an 18-year-old Portuguese man with an ischaemic stroke, who was subsequently diagnose...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:BMJ Case Rep
Päätekijät: Oliveira Santos, Miguel, Geraldes, Ruth, Conceição, Isabel
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2016
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5051395/
https://ncbi.nlm.nih.gov/pubmed/27681349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-216255
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