Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods

Affiliations

• ¹ Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: [email protected].
• ² Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
• ³ Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
• ⁴ Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
• ⁵ Department of Pediatrics, Nutritional and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.