Coronary luminal shape and the arc of disease-free wall: Morphologic observations and clinical relevance

The spectrum of free neuraminic acid sto

The spectrum of free neuraminic acid storage disease in childhood: Clinical, morphological and biochemical observations in three non-Finnish patients

✍ Sewell, Adrian C.; Poets, Christian F.; Degen, Ingrid; Stöß, Hartmut; Pontz, Ber 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 1 views

N-acetylneuraminic acid (sialic acid) storage disease is a rare autosomal recessive lysosomal disorder. Clinically two major forms exist, an infantile type with severe progression leading to early death, and a milder form (Salla disease) with a protracted course. Intermediate forms may also exist. D