Clinicopathological conference: One-year-old infant with hepatosplenomegaly and developmental delay

Author:

Barness Lewis A.,Wiederhold Sandra,Chandra Sunita,Odell Gerard B.,Shahidi Nasrollah T.,Gilbert Enid F.,Opitz John M.,Reynolds James F.

Publisher

Wiley

Subject

Genetics (clinical)

Reference48 articles.

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2. (1983): Sphingomyelin lipidoses: Niernann-Pick disease. In (eds): “Metabolie Basis of Inherited Disease.” New York: McGraw-Hill, 5th ed, pp 831-841.

3. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

4. (1973): Niemann-Pick's disease. In (eds): “Lysosomes and Storage Diseases.” New York: Acadcmic Press, pp 439-452.

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3. À propos d’un cas de maladie de Niemann-Pick type C : revue de la littérature;Médecine des Maladies Métaboliques;2014-12

4. Fatal Liver Failure in Two Children with Niemann-Pick Disease Type B;Journal of Pediatric Gastroenterology and Nutrition;1991-07

5. A catalogue of multiple congenital anomaly syndromes;Multiple Congenital Anomalies;1991

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