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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_2984_Библиотеки_им_академика_М_И_Перельмана
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INDEX
#
5-hydroxytryptophan, 281
6-pyruvoyl-tetrahydropterin synthase, 280
α
α-glucosaminide acetyltransferase, 52
α-synuclein, 155, 169, 256, 268
β
β-galactosidase, 32, 41, 225
β-hexosaminidase, 132, 134, 136, 137, 138,
146, 170, 172, 173, 176, 177, 178, 180,
184, 186, 190
A
acetyl coenzyme A, 312
acetylaspartylglutamate, 303, 310, 319
acetylglucosaminidase, 52, 53, 55, 60, 63,
80, 90, 91
adeno associated virus, 117, 232
adipokine, 256
aggregate-prone proteins, 254, 264
alpha-synuclein, 179
amniotic fluid, 39, 109, 123, 149, 311, 312,
321, 322
anemia, 23, 26
anxiety, 77, 79, 82, 181, 258, 287
anxiety disorder, 258
arylsulfatase-A, 197, 198, 204, 205, 221,
230
aspartate, 255, 304, 311, 312, 315, 320, 322
aspartoacylase, viii, 267, 303, 304, 305,
307, 316, 317, 318, 319, 320, 322, 323
astrocytes, 62, 72, 179, 312
ataxia, 37, 152, 153, 154, 161, 176, 181,
198, 199, 212, 213, 214, 304, 308, 314
atrophy, 38, 153, 157, 168, 182, 183, 212,
218, 219, 256, 314
atypical Parkinsonism, 254, 256
autism, 54, 81, 284
autophagosome, 154
autophagy, 79, 101, 254, 264, 273, 275
autosomal recessive diseases, 2
autosomal recessive disorder, 104, 131, 137,
255, 257
autosomal recessive inheritance, 34, 198,
239, 283
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Index
334
B
benzodiazepines, 43
beta-galactosidase, 42
beta-glucuronidase, 15, 106, 121, 122, 123,
124, 126
beta-hexosaminidase, 15, 163, 165, 166,
168, 172
blood-brain-barrier, 58, 60, 66, 69, 70, 87
bone marrow transplantation, 121, 125, 158,
161, 170, 174, 249, 251
brain, 2, 25, 47, 57, 60, 61, 62, 63, 65, 66,
67, 68, 70, 71, 72, 74, 75, 76, 77, 79, 88,
89, 90, 91, 95, 96, 98, 110, 116, 117,
118, 127, 133, 134, 135, 152, 154, 155,
156, 157, 159, 160, 162, 164, 165, 168,
169, 170, 172, 173, 179, 182, 183, 186,
190, 191, 193, 194, 198, 199, 200, 209,
211, 212, 215, 216, 217, 218, 219, 228,
229, 233, 237, 241, 246, 247, 248, 253,
255, 256, 259, 265, 266, 267, 270, 274,
281, 286, 287, 288, 292, 301, 303, 304,
305, 309, 310, 311, 312, 314, 316, 317,
318, 319, 320, 321, 322, 323
brainstem, 25, 210, 309
C
Canavan disease, vii, viii, 266, 267, 303,
304, 315, 316, 317, 318, 319, 320, 321,
322, 323
carbohydrate, 123
cardiac hypertrophy, 7
cardiomyopathy, 111, 114
cardiovascular disease, 111, 115, 116
carpal tunnel syndrome, 18, 54
cathepsin A, 32, 37, 41
caudate nucleus, 182, 305, 309
central nervous system, 62, 93, 100, 116,
127, 132, 169, 179, 182, 195, 198, 249,
255, 277, 281, 323
ceramide(s), 58, 134, 135, 155, 190, 206,
208, 234, 265
cerebellar ataxia, 153, 214, 225, 258
cerebellar atrophy, 152, 157, 218
cerebellar white matter, 217, 218, 309
cerebellum, 156, 157, 219, 309, 319, 321
cerebroside sulfate, 198, 201, 202, 205, 241
cerebrospinal fluid, 60, 65, 94, 155, 158,
223, 256, 304, 311, 312
cerezyme, 264
chaperone therapy, 185
cherry red spot, 133, 145, 151, 154, 162,
176, 180, 183
cherry-red macules, 2
chitotriosidase, 258, 270
chondroitin-4 and -6 sulfate, 103
clozapine, 264
coenzyme Q
10
, 77, 78
cognition, 254, 260
cognitive decline, 53, 105, 113, 153, 199,
225, 257, 260
cognitive impairment, 9, 104, 105, 113, 254,
284
consanguineous, 2, 12, 14, 18, 28, 111, 122,
177, 183, 306
constipation, 152, 238
convergent strabismus, 304, 308
corpus callosum, 10, 25, 57, 217, 218, 219,
303, 309
cortical neurons, 151
CRISPR-Cas9, 43, 44
D
dementia, 54, 82, 133, 150, 152, 153, 198,
199, 200, 212, 214, 226, 227, 248, 253,
254, 258, 261, 263, 273
demyelination, 154, 155, 182, 198, 209,
211, 225, 236
dentate nucleus, 210
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Index
335
depression, 82, 153, 253, 258, 264, 266,
267, 287
dermatan, 21, 51, 56, 84, 85, 97, 103, 104,
110
developmental delay, 10, 12, 23, 26, 54, 81,
104, 114, 151, 212, 235, 289, 307, 308,
309
diarrhea, 152, 158, 265
dihydroneopterin triphosphate, 280
docosahexaenoic acid, 291
dopamine, 237, 256, 257, 264, 268, 281,
284, 287, 297
dopamine replacement therapy, 264
dopamine transporter, 256, 268
dysarthria, 152, 153, 181, 199
dyskinesias, 264
dysmorphology, 54, 59
dysostosis multiplex, 14, 21, 33, 37, 222
dystonia, 152, 153, 237, 257, 264, 269, 274,
289
E
eliglustat, 265
embryopathy, 279, 289, 291
endoplasmic reticulum, 6, 29, 137, 205,
206, 228
enzyme replacement therapy, 44, 60, 62, 71,
72, 89, 90, 92, 104, 105, 113, 114, 121,
125, 126, 128, 129, 132, 159, 171, 194,
199, 227, 233, 240, 251, 264, 278
epithelial cells, 117
esophageal atresia, 289
extracellular matrix, 58, 110
F
facial dysmorphias, 289
facial dysmorphism, 21, 26
ferric chloride, 279
G
gait, 14, 133, 152, 154, 198, 199, 212, 213,
214, 215, 231, 254, 256, 261, 264, 268,
271
galactosialidosis, v, 8, 31, 32, 33, 37, 38, 41
gallbladder, 199, 244, 248
gallstones, 209
gangliosidosis, vi, 6, 8, 39, 131, 132, 136,
140, 146, 147, 149, 151, 153, 154, 155,
156, 157, 158, 160, 162, 163, 165, 166,
167, 168, 169, 171, 172, 176, 181, 184,
187, 190, 191, 192, 194, 195, 196, 226
Gaucher cells, 255, 257, 262
Gaucher disease, vii, 39, 78, 100, 149, 158,
171, 176, 189, 253, 255, 257, 262, 263,
265, 269, 270, 271, 272, 275
gene therapy, 44, 64, 65, 67, 68, 69, 73, 74,
75, 93, 94, 95, 96, 116, 118, 126, 128,
132, 158, 160, 162, 172, 173, 185, 186,
195, 198, 199, 227, 228, 232, 233, 234,
235, 236, 240, 248, 250, 292, 304
genetic counselling, 27, 226, 237, 239, 240
genistein, 69, 70, 76, 77, 97, 98, 99, 100
gingival hypertrophy, 10, 14
glial cells, 135, 200, 208, 210
gliosis, 151, 180
globotriaosylceramide, 205
globotriaosylsphingosine, 56
glucocerebrosidase, vii, 249, 253, 255, 257,
258, 263, 265, 269, 272, 273
glucosylceramide, 255, 257
glutamate carboxypeptidase II, 310
glyceryltriacetate, 314
glycolipid(s), 32, 34, 41, 138, 154, 158, 241,
245
glycomacropeptide, 290, 299
glycoproteins, 34, 41
glycosaminoglycans, 3, 31, 32, 52, 84, 85,
86, 93, 104, 109, 122, 123, 124
glycosphingolipids, 132, 134, 135, 158
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Index
336
glycosylation, 7, 106, 121, 205, 243
GM2 gangliosidoses, vi, 131, 132, 162, 165,
170, 175, 194
golgi, 6, 29, 137, 206
gomozygosity, 203
graft versus host disease, 229, 231
gray matter, 110, 135, 218, 303, 305, 309,
312
guanidino nitrogen, 282
guanosine triphosphate, 280, 282
guthrie card, 279
gyperacusis, 150
H
hallucinations, 153, 254
hematopoietic stem cell therapy, 64, 73, 235
hematopoietic stem cell transplantation, 44,
64, 104, 105, 113, 230, 236, 249
hemopoietic stem cell, 232
heparan, 21, 51, 52, 53, 55, 57, 58, 60, 61,
62, 80, 82, 84, 85, 86, 87, 89, 91, 92, 96,
98, 103, 104, 110
heparan sulfate, 84, 86, 87
heparan sulfate, 51, 52, 80, 82, 84, 85, 86,
87, 91, 98, 104, 110
hepato-/splenomegaly, 33
hepatomegaly, 14, 54, 104, 255, 257, 262
hepatosplenomegaly, 13, 103, 105, 111,
113, 114, 115, 176, 180, 183, 257, 262
hippocampus, 67, 110, 319
homozygosity, 204
Hurler syndrome, 3, 229
hydrolytic enzymes, 176
hydrops ana sarca, 33
hydrops fetalis, 33, 37, 38, 44, 103, 105,
109, 111, 114, 120, 123, 124, 125
hyperactivity, 54, 59, 77, 79, 81, 82, 88, 284
hyperacusis, 133, 145, 151, 162, 181
hyperphenylalaninemia, 278, 280, 288, 289,
294, 298, 299
hyperreflexia, 152, 212, 213
hypotonia, 3, 9, 23, 25, 26, 145, 150, 151,
176, 180, 198, 212, 225, 237, 304, 307,
308
I
idiopathic Parkinson disease, 256
iduronate-2-sulphatase, 13
imiglucerase, 264
inflammation, 88, 96, 104, 118, 154, 155,
169, 179, 186, 230, 255, 267, 311, 312,
320
inguinal hernia, 10, 18, 104, 113, 114
K
kidney, 164, 199, 241, 255, 304, 312
Kupffer cells, 40
kyphosis, 54
L
LAMP1, 37, 38
L-arginine, 282
L-aspartate N-acetyltransferase, 303, 311,
312, 315
lentivirus, 117, 127, 232
leucine-rich repeat kinase 2 gene, 254
leukodystrophy, vi, 182, 197, 200, 202, 224,
226, 236, 242, 246, 316, 322, 323
leukoencephalopathy, 182, 226, 284
lithium chloride, 314, 322
liver, 3, 39, 40, 62, 66, 72, 97, 111, 119,
151, 160, 172, 199, 200, 255, 279, 289,
304, 312
lordosis, 10, 54
lysosomal deficiency, 33
lysosomal storage diseases, 29, 38, 124,
162, 189, 243
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Index
337
lysosomal storage diseases, vii, 2, 5, 125,
166, 171, 174, 176, 189, 190, 191, 244,
267, 316, 320
lysosomal storage disorders, 2, 8, 27, 28, 33,
44, 51, 93, 113, 132, 159, 163, 176, 188,
189, 193, 198, 226, 242, 250
lysosome(s), 2, 5, 6, 9, 28, 29, 31, 32, 34,
35, 37, 38, 41, 53, 58, 63, 72, 98, 104,
110, 114, 121, 131, 137, 138, 154, 176,
178, 179, 206, 210, 229, 233, 243, 254,
263
lysosulfatides, 210
M
macrocephaly, viii, 14, 151, 181, 304, 305,
307, 308, 315, 317
macrophages, 38, 40, 47, 111, 210, 249, 257
mannose 6-phosphate, 127, 137, 243
maternal phenylketonuria syndrome, 289
mental deterioration, 181
mental retardation (MR), 21, 33, 37, 47, 52,
80, 82, 103, 114, 126, 168, 169, 170,
189, 192, 193, 194, 219, 244, 246, 247,
262, 272, 274, 304, 307
metachromatic leukodystrophy, 8, 197, 198,
199, 200, 201, 235, 236, 240, 241, 242,
243, 244, 245, 246, 247, 248, 249, 250,
251, 252
microcephaly, viii, 151, 284, 289, 304, 307,
308, 309, 310, 313, 315, 316
microglia, 61, 62, 68, 71, 75, 156, 161, 179,
210, 230, 245, 249
micronutrients, viii, 290, 293
miglustat, 77, 78, 100, 158, 161, 171, 185,
234, 265, 275
motor delay, 17, 304, 308
mucolipidoses, 2, 6, 8, 27, 30, 84, 85, 123
mucolipidosis II, 7, 8, 28, 46, 98
mucolipidosis IV, 8, 9, 49
mucopolysaccharidosis, v, 2, 13, 31, 32, 39,
45, 47, 51, 52, 81, 82, 83, 85, 86, 87, 88,
89, 90, 91, 92, 93, 94, 95, 96, 97, 98, 99,
100, 101, 103, 104, 120, 121, 122, 123,
124, 125, 126, 127, 128, 149
mucopolysaccharidosis type IH, 31, 32
mucopolysaccharidosis VII, 103, 104, 121,
122, 124, 126, 127, 128
myelin, 135, 151, 165, 182, 194, 198, 200,
201, 208, 209, 210, 211, 216, 219, 220,
223, 244, 245, 287, 315, 323, 328, 329,
331
myelination, 155, 182, 194, 312, 323
N
N-acetyl aspartic acid, vii, 255, 266, 303,
312
N-acetylaspartate, 157, 191, 220, 304, 310,
311, 317, 319, 320, 322, 323
N-acetylaspartate-L-glutamate ligase, 310
N-acetylaspartylglutamate, 179, 310, 311,
319
N‐acetylglucosamine, 6
N-acetylglucosamine-6-sulfatase, 52, 53,
55, 57
N-acetylhexosamine, 180
N-acetyltransferase-8 like, 315
neural stem cell transplantation, 158, 195
neural stem cells, 186
neuraminidase, 32, 33, 34, 37, 41, 42, 46,
47, 48, 49
neurocognitive disorder, 284
neurodegeneration, 29, 38, 47, 52, 53, 58,
60, 89, 94, 150, 154, 159, 167, 169, 170,
179, 185, 192, 194, 267, 320
neuroinflammatation, 67
nicotinamide phosphoribosyl transferase,
256
nucleic acids, 176
N-α-acetyl-neuraminidase, 32
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Index
338
O
oligodendrocyte, 135, 155
oligosaccharides, 9, 32, 41, 46, 137, 179
optic atrophy, 152, 212, 307
oral contraceptives pills, 148
oxidative stress, 58, 88, 230, 255, 267, 304,
305, 315
P
pallidotomy, 264, 274
pancreas, 199
papular rash, 13
Parkin, 254
Parkinson disease, 254, 256, 257, 259, 260,
263, 266, 268, 271, 273, 274
peripheral nervous system, 88, 182, 198,
201, 211, 245
peripheral neuropathy (PN), 37, 168, 211,
212, 214, 216, 222, 225, 231, 238, 245,
273
pharyngeal dysphagia, 309
phenylalanine, vii, 277, 278, 279, 281, 290,
292, 293, 294, 295, 296, 297, 299, 300,
301
phenylalanine ammonium lyase, 292
phenylalanine hydroxylase, 277, 278, 279,
281, 293, 294, 295, 296, 300
phenylketonuria, vi, vii, viii, 267, 277, 279,
284, 286, 289, 293, 294, 295, 296, 297,
298, 299, 300, 301, 302, 316, 320
phenylpyruvic acid, 279, 294
phosphocreatine, 157
phosphoglycerate kinase, 68
pimavanserin, 264
pneumonia, 151, 187, 238
polyposis, 209
pons, 218, 219, 304, 305, 309, 317
prenatal diagnosis, 39, 49, 123, 132, 133,
149, 162, 184, 188, 221, 226, 239, 258,
270, 294, 311, 313, 317, 319, 321, 322
proteins, 9, 32, 34, 36, 48, 55, 56, 60, 109,
124, 131, 137, 155, 176, 179, 205, 228,
234, 254, 255, 278, 290
psychomotor retardation, 7, 213, 284, 307
psychosis, 153, 181, 214, 226, 264, 275
pulmonary fibrosis, 262
purkinje cells, 110
putamen, 182, 303, 305, 309
Q
quetiapine, 264
R
restless legs syndrome, 259
retrovirus, 232
rhomboid fossa, 259, 260
rivotril, 314
S
Sandhoff disease (SD), vi, 51, 86, 98, 99,
131, 132, 134, 140, 146, 151, 152, 153,
155, 156, 159, 160, 161, 162, 163, 168,
169, 170, 172, 173, 174, 175, 176, 177,
179, 180, 181, 182, 183, 185, 186, 187,
188, 189, 190, 191, 192, 193, 194, 195,
242, 308
Sanfilippo disease, 51, 53, 54, 55, 56, 59,
64, 65, 71, 72, 74, 75, 76, 77, 78, 79, 80,
81, 82, 86, 87, 89, 96, 98, 100, 101
saposin, 199, 205, 208, 221, 222
sapropterin dihydrochloride, 291
Schwann cells, 198, 208, 209, 210
scoliosis, 18, 54, 238
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Index
339
seizure(s), 3, 37, 42, 49, 54, 133, 145, 150,
152, 162, 176, 180, 185, 187, 198, 199,
212, 213, 214, 225, 238, 252, 307, 308,
314
sepiapterin reductase, 280
serotonin, 281, 284, 287, 289, 297
sialidase, 2, 32, 34, 44, 46, 47, 48, 49
sialidosis, v, 2, 6, 8, 28, 31, 32, 33, 34, 35,
36, 37, 38, 39, 40, 41, 42, 44, 46, 47, 48,
49, 193
skeletal abnormalities, 103, 105
skeletal dysplasia, 30, 33, 104, 113
skeletal malformations, 2
sleep disorder, 181, 238, 285, 297
Sly disease, 103, 106, 113, 125
spastic paraparesis, 212, 214, 284
spastic quadriparesis, 199, 212, 308
spasticity, 3, 9, 54, 150, 198, 212, 213, 225,
237, 258, 264, 308
sphingolipidoses, 5, 8, 176, 189, 247
sphingolipidosis, 2, 178, 179
sphingomyelin, 58
spinal cord, 61, 156, 161, 177, 210, 233,
264
spinal deformity, 7, 117
spinocerebellar ataxia, 181, 226
spondylitis, 260
status epilepticus, 42, 49
strabismus, 25, 258, 309
substrate reduction, 44, 69, 76, 77, 96, 98,
99, 132, 158, 161, 170, 171, 185, 195,
199, 227, 265, 275
substrate reduction therapy, 44, 69, 76, 77,
96, 98, 99, 132, 161, 170, 171, 185, 199,
265, 275
sulfamidase, 60, 86, 90, 91, 127
sulfatide, 198, 201, 206, 207, 208, 209, 210,
216, 221, 224, 227, 233, 234, 238, 241,
245, 247, 248
sulfogalacto-sylceramide, 198
sulfoglucosamine sulfohydrolase, 66
sulfolactosylceramide, 198
supranuclear palsy, 254, 256
T
tachypnea, 57, 87
Tay-Sachs disease, 131, 132, 133, 141, 151,
163, 164, 165, 166, 167, 168, 169, 170,
171, 177, 180
testes, 199, 209
tetrahydrobiopterin, viii, 278, 280, 281, 282,
293, 294, 295, 300, 302
thalami, 151, 193, 305
thalamus, 67, 75, 156, 157, 161, 183, 194,
218, 219, 225, 304, 309, 310
thalassaemia, 5
thrombocytopenia, 23, 24, 26
transcinamic acid, 292
transferrin receptor, 62
transplantation, 44, 64, 93, 125, 161, 162,
170, 174, 198, 199, 230, 231, 232, 236,
249, 250, 251, 252
trehalose, 77, 79, 101
tremor, 213, 256, 261, 262, 264, 284, 287,
299, 309, 314, 322
tryptophan hydroxylase, 281
tumour necrosis factor-α, 155
type-1 Gaucher disease, 257
type-2 Gaucher disease, 258
type-3 Gaucher disease, 258
tyrosine, 277, 278, 280, 281, 292, 293
tyrosine hydroxylase, 281
U
urine, 3, 9, 14, 15, 21, 46, 56, 57, 62, 72, 77,
79, 108, 123, 179, 199, 200, 221, 244,
278, 281, 294, 304, 307, 310, 311, 312,
314, 319, 321
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Index
340
V
vascular parkinsonism, 256
visual impairment, 3
W
wintrobe tube method, 262
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