Idioma:

Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)

Schänzer, A. ; Faas, D. ; Rust, S. ; Podskarbi, T. ; van Kuilenburg, A. B. P. ; Scarpa, M. ; Kunze, A. ; Marquardt, T. ; Hahn, A.

Klinische Padiatrie, 2016-09, Vol.228 (5), p.277-279 [Periódico revisado por pares]

Texto completo disponível

Citações Citado por

Título:
Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)
Autor: Schänzer, A. ; Faas, D. ; Rust, S. ; Podskarbi, T. ; van Kuilenburg, A. B. P. ; Scarpa, M. ; Kunze, A. ; Marquardt, T. ; Hahn, A.
Assuntos: Biopsy ; Carbon-Carbon Ligases - deficiency ; Carbon-Carbon Ligases - genetics ; Consanguinity ; DNA Mutational Analysis ; Female ; Genes, Recessive - genetics ; Germany ; Glycogen Storage Disease Type IV - diagnosis ; Glycogen Storage Disease Type IV - enzymology ; Glycogen Storage Disease Type IV - genetics ; Glycogen Storage Disease Type IV - pathology ; Hexosaminidases - blood ; Humans ; Infant, Newborn ; Macrophages - pathology ; Muscle, Skeletal - pathology ; Myofibrils - pathology ; Short Communication ; Turkey - ethnology ; Urea Cycle Disorders, Inborn - diagnosis ; Urea Cycle Disorders, Inborn - enzymology ; Urea Cycle Disorders, Inborn - genetics
É parte de: Klinische Padiatrie, 2016-09, Vol.228 (5), p.277-279
Editor: Stuttgart · New York: Georg Thieme Verlag KG
Idioma: Inglês;Alemão

Links

Voltar para lista de resultados