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Showing articles 0 to 9 of 9

Filter Applied: enzyme,defect (Click to remove)

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024

Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
Neurol 39:741-742, Friedman,J.H.,et al, 1989

Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979

Adult-onset GM2 Gangliosidosis
Neurol 28:1117-1123, O'Neill,B.,et al, 1978



Showing articles 0 to 9 of 9