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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Gaucher disease—neuronopathic forms
edited_book
Author(s):
Raphael Schiffmann
Publication date
(Print):
2020
Publisher:
Elsevier
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Neuropsychiatric Disease and Treatment
Author and book information
Book Chapter
Publication date (Print):
2020
Pages
: 439-449
DOI:
10.1016/B978-0-12-813955-4.00030-1
SO-VID:
56e7ed53-d477-4db4-9fcb-c63a7b619de1
License:
https://www.elsevier.com/tdm/userlicense/1.0/
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Book chapters
pp. i
Title page
pp. iv
Copyright
pp. v
Dedication
pp. vii
Contents
pp. xvii
List of contributors
pp. xxi
Foreword
pp. xxiii
Prologue
pp. xxv
Introduction
pp. 3
Mendelian, non-Mendelian, multigenic inheritance, and epigenetics
pp. 27
Precision medicine in neurology
pp. 41
Epigenomics of neurological disorders
pp. 59
Genotype–phenotype considerations in neurogenetic disease
pp. 71
Immunogenetics of neurological disease
pp. 81
Pharmacogenomic approaches to the treatment of sporadic Alzheimer’s disease
pp. 95
Application of mouse genetics to human disease: generation and analysis of mouse models
pp. 109
DNA sequencing and other methods of exonic and genomic analyses
pp. 121
Association, cause, and causal association, revised: reasoning and methods
pp. 129
Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders
pp. 145
Genomics of human neurological disorders
pp. 157
CRISPR–Cas immune systems and genome engineering
pp. 179
Direct induction of neural cells from somatic cells
pp. 187
Neuroimaging in dementias
pp. 199
Cognitive enhancers, intellectual disability, and personal identity: emerging ethical issues
pp. 209
Genetic counseling
pp. 221
Antisense oligonucleotide drugs for neurological and neuromuscular disease
pp. 249
Cerebral malformations
pp. 269
Global developmental delay and intellectual disability
pp. 283
Alzheimer’s disease and Down syndrome
pp. 299
An overview of Rett syndrome
pp. 311
Fragile X clinical features and neurobiology
pp. 333
Neurological evaluation and management of autism spectrum disorder
pp. 349
Angelman syndrome
pp. 363
Prion diseases
pp. 389
The mitochondrial genome
pp. 401
Mitochondrial disorders due to mutations in the mitochondrial genome
pp. 415
Mitochondrial disorders due to mutations in the nuclear genome
pp. 427
Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle, and mitochondrial transport disorders
pp. 439
Gaucher disease—neuronopathic forms
pp. 451
The Niemann–Pick diseases
pp. 461
GM2-gangliosidoses
pp. 473
Metachromatic leukodystrophy and multiple sulfatase deficiency
pp. 481
Krabbe disease: globoid cell leukodystrophy
pp. 493
The mucopolysaccharidoses
pp. 513
The mucolipidoses
pp. 519
Disorders of glycoprotein degradation: sialidosis, fucosidosis, α-mannosidosis, β-mannosidosis, and aspartylglycosaminuria
pp. 535
β-Galactosidase deficiency: GM1 gangliosidosis, Morquio B disease, and galactosialidosis
pp. 547
Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolysis
pp. 559
Wolman disease
pp. 567
Lysosomal membrane disorders: lysosome-associated membrane protein-2 deficiency (Danon disease)
pp. 575
Fabry disease: α-galactosidase A deficiency
pp. 589
Schindler disease: deficient α-N-acetylgalactosaminidase activity
pp. 601
Wilson disease
pp. 613
Menkes disease and other ATP7A disorders
pp. 621
Neurodegeneration with brain iron accumulation
pp. 633
Pantothenate kinase–associated neurodegeneration
pp. 643
Disorders of manganese transport
pp. 657
Aceruloplasminemia
pp. 671
Genetic and dietary influences on life span
pp. 687
Vitamins: cobalamin and folate
pp. 699
Inherited biotin-responsive disorders
pp. 711
Disorders of pyridoxine metabolism
pp. 731
Disorders of lipid metabolism
pp. 755
Lipoprotein disorders
pp. 767
Cerebrotendinous xanthomatosis
pp. 785
Organic acid disorders
pp. 793
Glycogen and polyglucosan storage diseases
pp. 803
Disorders of galactose metabolism
pp. 817
Inborn errors of amino acid metabolism phenylketonuria and disorders of biopterin metabolism
pp. 827
Urea cycle disorders
pp. 849
Glucose transporter type I deficiency and other glucose flux disorders
pp. 865
Maple syrup urine disease: biochemical, clinical and therapeutic considerations
pp. 877
Congenital disorders of N-linked glycosylation
pp. 897
Disorders of glutathione metabolism
pp. 909
Canavan disease
pp. 917
Neurotransmitter disorders
pp. 931
Peroxisomal disorders
pp. 943
Purines and pyrimidines
pp. 953
The acute porphyrias
pp. 971
Index
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