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Produktbild: Mucopolysaccharidoses and similar lysosomal disorders – A guide for affected individuals, their families, doctors and nursing professionals

Mucopolysaccharidoses and similar lysosomal disorders – A guide for affected individuals, their families, doctors and nursing professionals

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Beschreibung

Produktdetails

Einband

Gebundene Ausgabe

Erscheinungsdatum

10.06.2024

Abbildungen

76 Abbildungen

Verlag

Uni-Med

Seitenzahl

196

Maße (L/B/H)

1,3/17,6/24,6 cm

Gewicht

506 g

Auflage

4th edition

Sprache

Englisch

ISBN

978-3-8374-1670-1

Beschreibung

Produktdetails

Einband

Gebundene Ausgabe

Erscheinungsdatum

10.06.2024

Abbildungen

76 Abbildungen

Verlag

Uni-Med

Seitenzahl

196

Maße (L/B/H)

1,3/17,6/24,6 cm

Gewicht

506 g

Auflage

4th edition

Sprache

Englisch

ISBN

978-3-8374-1670-1

Herstelleradresse

UNI-MED
Alten Eichen 2
28359 Bremen
DE
info@uni-med.de

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  • Produktbild: Mucopolysaccharidoses and similar lysosomal disorders – A guide for affected individuals, their families, doctors and nursing professionals
  • 1. Introduction 122. The history of mucopolysaccharidoses and similar disorders 152.1. Conspicuous features as a first indication 152.2. Early possible traces of mucopolysaccharidosis and similar disorders 162.3. First confirmed evidence of mucopolysaccharidoses and similar disorders 162.4. The mucopolysaccharidoses and similar lysosomal storage disorders through the ages 232.5. Outlook 233. Physiology, biochemistry and pathophysiology in mucopolysaccharidoses and similar lysosomal storage disorders 273.1. Physiology of lysosomes 273.2. Formation (synthesis) of lysosomal enzymes 273.3. Pathophysiology of lysosomal enzymes 283.4. Measuring the activity of lysosomal enzymes 293.5. Biochemistry 293.6. Biochemical detection and diagnostics 313.7. Further biomarkers in lysosomal storage disorders 314. General aspects of mucopolysaccharidoses and similar lysosomal storage disorders 344.1. Nomenclature and synonyms 344.2. Frequency of lysosomal storage disorders 354.3. Multisystemic diseases 354.4. Genotype-phenotype correlation, special types 364.5. Lysosomal storage disorders and co-morbidities 364.6. Early symptoms of MPS and similar lysosomal storage disorders 364.7. Clinical suspicions for lysosomal storage disorders 374.8. The diagnostic odyssey 404.9. Newborn screening 404.10. Patient registries 415. Clinical presentation of mucopolysaccharidoses 435.1. General clinical aspects 435.1.1. Dysostosis multiplex and typical radiological findings 455.1.2. Imaging findings in the brain and spinal cord 495.1.3. Heart and vessels 505.1.4. Airway and anesthesia problems 505.2. The clinical presentation of mucopolysaccharidosis 505.2.1. Mucopolysaccharidosis type I – iduronidase deficiency 505.2.2. Mucopolysaccharidosis type II – Hunter 545.2.3. Mucopolysaccharidosis type III – Sanfilippo 575.2.4. Mucopolysaccharidosis type IV – Morquio 615.2.5. Mucopolysaccharidosis type VI – Maroteaux-Lamy 675.2.6. Mucopolysaccharidosis type VII – Sly 695.2.7. Mucopolysaccharidosis type IX – hyaluronidase deficiency 715.2.8. Mucopolysaccharidosis type X – arylsulfatase K deficiency 725.2.9. Mucopolysaccharidosis plus syndrome 736. Selected similar lysosomal storage disorders and differential diagnoses 776.1. Selected similar lysosomal storage disorders 776.1.1. Oligosaccharidoses / glycoproteinoses 786.1.1.1. Alpha-mannosidosis (a-mannosidosis) 786.1.1.2. Alpha-N-acetylgalactosaminidase deficiency – Schindler disease 796.1.1.3. Aspartylglucosaminuria 806.1.1.4. Beta-mannosidosis (b-mannosidosis) 806.1.1.5. Fucosidosis 816.1.1.6. Galactosialidosis (Goldberg syndrome) 826.1.1.7. Sialidosis – neuraminidase deficiency 836.1.2. Sialic acid metabolic disorders 846.1.2.1. Sialuria 846.1.2.2. Free sialic acid storage disorders – ISSD and Salla disease 846.1.3. Sphingolipidoses / neurolipidoses 856.1.3.1. Fabry disease 856.1.3.2. Farber disease and SMA-PME (ASAH1-Related Disorders) 876.1.3.3. GM1 and GM2 gangliosidoses 886.1.3.3.1. GM1 gangliosidosis (GLB1-associated disorder) 886.1.3.3.2. GM2 gangliosidoses (Tay-Sachs and Sandhoff) 896.1.3.4. Gaucher disease 916.1.3.5. Krabbe disease (globoid cell leukodystrophy) 936.1.3.6. Metachromatic leukodystrophy (arylsulfatase A deficiency) 946.1.3.7. Acid sphingomyelinase deficiency and Niemann-Pick type C 946.1.3.7.1. Acid sphingomyelinase deficiency (ASMD) 956.1.3.7.2. Niemann-Pick disease type C 966.1.4. Others 966.1.4.1. CDG syndromes – diseases with disorders of glycosylation 966.1.4.2. Lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease) 976.1.4.3. Multiple sulfatase deficiency 986.1.4.4. Neuronal ceroid lipofuscinoses 996.1.4.5. Pompe disease 996.1.4.6. Pycnodysostosis 1006.2. Differential diagnoses 1036.2.1. Williams-Beuren syndrome 1036.2.2. Coffin-Lowry syndrome 1046.2.3. Smith-Magenis syndrome 1056.2.4. Beckwith-Wiedemann syndrome 1076.2.5. Congenital hypothyroidism 1086.2.6. Type II collagen disorders – collagenopathies type II 1096.2.7. Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia type 1 1106.2.8. Cornelia de Lange syndrome 1126.2.9. Costello syndrome 1136.2.10. 3M syndrome 1147. Mucolipidoses 1177.1. Underlying pathomechanisms 1177.2. Clinical presentation of mucolipidosis 1187.2.1. Mucolipidosis I 1187.2.2. Mucolipidosis II alpha/beta (ML II a/b) – I-cell disease 1197.2.3. Mucolipidosis III alpha/beta (ML III a/b) 1217.2.4. Mucolipidosis III gamma (ML III g) 1237.2.5. Mucolipidosis IV 1238. Treatment 1258.1. Symptomatic treatment 1258.1.1. Musculoskeletal system 1258.1.2. Neurological problems 1268.1.2.1. Central and local nerve damage 1268.1.2.2. Developmental delay, loss of mental abilities, behavioral abnormalities and epileptic seizures 1278.1.2.3. Hydrocephalus 1288.1.3. Sensory organs 1288.1.4. Airways and lungs 1298.1.5. Cardiovascular system 1298.1.6. Anesthesia problems 1298.2. Causal therapies 1318.2.1. Hematopoietic stem cell transplantation (HSCT) 1318.2.2. Systemic enzyme replacement therapy (ERT) 1328.2.3. Substrate reduction therapy (SRT): genistein 1338.2.4. Pharmacological chaperones (PC) 1348.2.5. CNS-sensitive enzyme replacement therapy 1348.2.6. Gene therapy 1349. Emergency situations 1369.1. Perioperative risks 1369.2. Risk of infusion reactions 1379.3. Other risks 13710. Genetics and genetic counseling 13910.1. Medical basics 13910.2. Genetic counseling 14310.2.1. Prenatal diagnosis 14310.2.2. Preimplantation genetic diagnosis 14310.2.3. Heterozygote tests 14410.2.4. Considerations regarding genetics in a family 14511. Puberty and transition 14711.1. Puberty 14711.2. Transition 14912. Fertility and the desire to have children 15212.1. Fertility 15212.2. Planning the desire to have children 15213. Living with mucopolysaccharidosis 15513.1. Making everyday life easier for those affected 15513.1.1. Medical aids 15513.1.2. Wheelchairs 15513.1.3. Electronic aids 15613.2. Leisure, hobbies and social contacts 15613.2.1. Sport and exercise 15613.2.2. Exercise in the fresh air 15713.2.3. Playing games 15713.3. School and education 15713.4. Siblings – shadow children 16013.5. Parents – not flawless, but always striving for perfection 16214. Self-help and self-help organizations 16315. Important contact addresses 16815.1. Hospitals and departments 16815.2. Self-help associations for mucopolysaccharidosis and rehabilitation centers 17016. Glossary – Explanation of important terms 180 Index 193