TY  - GEN
AU  - Okuyaz,Cetin
AU  - Ezgü,Fatih Süheyl
AU  - Biberoglu,Gürsel
AU  - Zeviani,Massimo
AU  - Tiranti,Valeria
AU  - Yilgör,Esat
TI  - Severe infantile hypotonia with ethylmalonic aciduria: case report
SN  - 0883-0738
PY  - 2008///0728
KW  - Alleles
KW  - Butyryl-CoA Dehydrogenase
KW  - deficiency
KW  - DNA Mutational Analysis
KW  - Developmental Disabilities
KW  - diagnosis
KW  - Diagnosis, Differential
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Lipid Metabolism, Inborn Errors
KW  - Malonates
KW  - urine
KW  - Muscle Hypotonia
KW  - Muscle Weakness
KW  - Neurologic Examination
KW  - Phenotype
KW  - Polymorphism, Genetic
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1177/0883073807313048
ER  -