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

• Patryk Lipiński,
• Irena Jankowska,
• Agnieszka Ługowska,
• Małgorzata Musielak,
• Maciej Pronicki,
• Anna Tylki-Szymańska

Affiliations

Patryk Lipiński

Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland

Irena Jankowska

Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland

Agnieszka Ługowska

Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland

Małgorzata Musielak

Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland

Maciej Pronicki

Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland

Anna Tylki-Szymańska

Department of Pediatrics, Nutritional and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland