Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

Mucopolysaccharidosis are genetic disorders due to deficiency of lysosomal enzymes, resulting in abnormal glycosaminoglycans accumulation in several tissues. Heart involvement tends to be progressive and worsens with age. We describe the first case of mucopolysaccharidosis type I presenting with non...

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Veröffentlicht in:	Molecular genetics and metabolism reports 2021-03, Vol.26, p.100714, Article 100714
Hauptverfasser:	Miselli, Francesca, Brambilla, Alice, Calabri, Giovanni Battista, Favilli, Silvia, Sanvito, Maria Chiara, Ragni, Luca, Torcetta, Francesco, Rossi, Katia, Donati, Maria Alice, Procopio, Elena
Format:	Artikel
Sprache:	eng
Schlagworte:	Cardiac failure Cardiomyopathy Case Report Genetics & Heredity Heart failure Life Sciences & Biomedicine Mucopolysaccharidosis Neonatal Noncompaction Science & Technology
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