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Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.

A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in a...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Hutchesson, A C, Gray, R G, Spencer, D A, Keir, G
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 1995
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1511087/
https://ncbi.nlm.nih.gov/pubmed/7618917
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