TY  - GEN
AU  - Ghirri,Paolo
AU  - Vuerich,Marco
AU  - Ferdinandusse,Sacha
AU  - Waterham,Hans R
AU  - Guzzetta,Andrea
AU  - Bianchi,Maria C
AU  - Boldrini,Antonio
AU  - Wanders,Ronald J A
TI  - A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations
SN  - 1442-200X
PY  - 2012///0320
KW  - 17-Hydroxysteroid Dehydrogenases
KW  - deficiency
KW  - Fatal Outcome
KW  - Female
KW  - Humans
KW  - Hydro-Lyases
KW  - Infant, Newborn
KW  - Peroxisomal Disorders
KW  - diagnosis
KW  - Peroxisomal Multifunctional Protein-2
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/j.1442-200X.2010.03255.x
ER  -