- Tytuł:
- Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report
- Autorzy:
-
Borkowska, Anna
Jankowska, Agnieszka
Szlagatys-Sidorkiewicz, Agnieszka
Sztangierska, Beata
Liberek, Anna
Plata-Nazar, Katarzyna
Kamińska, Barbara - Powiązania:
- https://bibliotekanauki.pl/articles/1039156.pdf
- Data publikacji:
- 2015
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
Spinal muscular atrophy
diabetes mellitus
children - Opis:
- The spinal muscular atrophy is a rare autosomal recessive genetic disease characterized by the progressive loss of muscular strength. In its natural course the disease leads to death. Diabetes mellitus type 1 is an autoimmune metabolic disorder characterized by the disturbed insulin synthesis. This is a case report of an 8-year-old girl suffering from Werdnig Hoffman disease in whom DM1 was diagnosed. The unspecific clinical manifestation and diagnostic difficulties are presented in this paper. To the authors' knowledge, this is the first publication concerning the co-existence of these two medical conditions.
- Źródło:
-
Acta Biochimica Polonica; 2015, 62, 1; 167-168
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł