On-Line Literature
PND Association
Future Neurology
September 2006 Vol. 1 No. 5
Contents
Inherited disorders of neurotransmitters
Guest Editor: Phillip L Pearl
Editorial
589 Inherited neurotransmitter disorders: a rapidly enlarging field of neurometabolismin children and adults
PL Pearl
Special Report 593 Cerebrospinal fluid analysis in the diagnosis of treatable inherited disordersof neurotransmitter metabolism
K Hyland
Reviews
605 Inherited disorders of amine biosynthesis
KJ Swoboda
615 Inborn errors affecting vitamin B6 metabolism
R Surtees, P Mills & P Clayton
621 Clinical variability in glycine encephalopathy
JB Hennermann
631 Inherited disorders of GABA metabolism
PL Pearl, TR Hartka, JL Cabalza, J Taylor & M Gibson
637 Are cerebral creatine deficiency syndromes on the radar screen?
LS Almeida, EH Rosenberg, NM Verhoeven, C Jakobs & GS Salomons
Clinical Focus
651 Biogenic amines and pterins in cerebrospinal fluid: some pitfalls with interpretation
B Assmann
Reviews (continued)
659 Metabolic brain imaging by magnetic resonance
EJ Novotny Jr
EJ Novotny Jr
665 Murine models of inherited monoaminergic and GABAergic neurotransmitter disorders
B Thöny & KM Gibson
677 Applying advances in neurogenetics to medical practice
A Gropman
Tyrsosine Hydroxylase Deficiency (TH)
For a complete list of articles on Tyrsosine Hydroxylase Deficiency, please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. Before clicking, you will need to enter the following information at the OMIM site:
Key Words: 'Tyrosine Hydroxylase'
Access Listing: 191290
http://www.ncbi.nlm.nih.gov/omim
Brautigam C., Wevers R., Jansen R., Smeitink J., De Rijk-Van Andel J., Gabreels F., Hoffmann G.,
Clinical Chemistry, 1998 44:9 1897-1904
Aromatic L-Amino Acid Decarboxylase Deficiency (AADC)
For a complete list of articles on Aromatic L-Amino Acid Decarboxylase Deficiency, please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. Before clicking, you will need to enter the following information at the OMIM site:
Key Words: 'Aromatic L-Amino Decarboxylase'
Access Listing: 107930
http://www.ncbi.nlm.nih.gov/omim<
"Aromatic L-Amino Acid Decarboxylase Deficiency: Clinical Features, Diagnosis, and Treatment of a New Inborn Error of Neurotransmitter Amine Synthesis".
Hyland K., Surtees R., Rodeck C., Clayton P., Neurology, 1992:42:1980-1987.
"Clinical and Therapeutic Observations in Aromatic L- Amino Acid Decarboxylase Deficiency".
Swoboda K.J., Hyland K., Godstein D., Kuban K.C.K., Arnold L.A., Holmes C.S., Levy H.L.,
Neurology, 1999: 53:1205-1211.
Guanosine Triphosphate Cyclohydrolase I Deficiency (GTPCH)
For a complete list of articles on Guanosine Triphosphate Cyclohydrolase I Deficiency (GTPCH) please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. Before clicking, you will need to enter the following information at the OMIM site:
Key Words: 'Cyclohydrolase I Deficiency'
Access Listing: 233910
http://www.ncbi.nlm.nih.gov/omim
Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
For a complete list of articles on SSADH, please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. Before clicking, you will need to enter the following information at the OMIM site:
Key Words: 'Succinic Semialdehyde Dehydrogenase Deficiency'
Access Listing: 271980