A Zuppaldi
Overview
Explore the profile of A Zuppaldi including associated specialties, affiliations and a list of published articles.
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Articles
2
Citations
20
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0
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Recent Articles
1.
Fecarotta S, Parenti G, Vajro P, Zuppaldi A, Della Casa R, Carbone M, et al.
J Inherit Metab Dis
. 2006 Apr;
29(1):186-9.
PMID: 16601889
We report a 3-year-old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonaemia, coagulopathy and moderate hypertransaminasaemia were detected on...
2.
De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo M, Zuppaldi A, et al.
Eur J Hum Genet
. 1999 Dec;
7(8):937-40.
PMID: 10602371
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human...