RT Book, Section
A1 Ropper, Allan H.
A1 Samuels, Martin A.
A1 Klein, Joshua P.
A1 Prasad, Sashank
SR Print(0)
ID 1162596969
T1 Inherited Metabolic Diseases of the Nervous System
T2 Adams and Victor's Principles of Neurology, 11e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071842617
LK neurology.mhmedical.com/content.aspx?aid=1162596969
RD 2024/04/18
AB Advances  in  biochemistry  and  molecular  genetics  have  led  to  the  discovery  of  such  a  large  number  of  metabolic  diseases  of  the  nervous  system  that  it  taxes  the  mind  just  to  remember  their  names.  As  the  causes  and  mechanisms  of  the  diseases  included  in  this  chapter  are  increasingly  being  expressed  in  terms  of  molecular  genetics,  it  seems  appropriate,  by  way  of  introduction,  to  consider  briefly  some  basic  facts  pertaining  to  the  genetics  of  neurologic  disease.  The  reader  is  referred  to  the  continuously  updated  database,  Online  Mendelian  Inheritance  in  Man  (OMIM)(http://www.ncbi.nlm.nih.gov/omim).  This  resource  contains  an  overview  on  all  known  mendelian  disorders  and  over  15,000  genes.  It  can  be  used  to  cross  reference  disorders,  genes,  and  even  single  symptoms  and  the  associated  genetic  variants.