13: Pompe Disease
Case history 1 A full-term female was born after an uneventful pregnancy. She had an abnormally high respiratory rate of 100 per minute during the first day. Her liver was…
17: Lysosomal Membrane Defects
Related posts: 10: Types A and B Niemann–Pick Disease 18: Neuronal Ceroid Lipofuscinoses 8: The Gangliosidoses 5: Classification of Lysosomal Storage Diseases 24: The Patient Perspective on Rare Diseases 12:…
20: Current Treatments
Related posts: 10: Types A and B Niemann–Pick Disease 18: Neuronal Ceroid Lipofuscinoses 8: The Gangliosidoses 5: Classification of Lysosomal Storage Diseases 24: The Patient Perspective on Rare Diseases 12:…
18: Neuronal Ceroid Lipofuscinoses
2 Department of Paediatric Neurology, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Batten disease or Neuronal Ceroid Lipofuscinosis (NCLs) is the collective name for a…
10: Types A and B Niemann–Pick Disease
Type A A 3-month-old previously well boy was noted to have hepatosplenomegaly during a routine pediatric visit. Over the next several months, the infant acquired developmental milestones appropriately and learned…
1: The Lysosomal System: Physiology and Pathology
The canonical endocytic pathway progresses along an increasing lumen-acidic gradient from early endosomes retrogradely trafficked from the plasma membrane, to multivesicular bodies or late endosomes, and finally to perinuclear-localized lysosomes….
4: Genetics of Lysosomal Storage Disorders and Counselling
Related posts: 18: Neuronal Ceroid Lipofuscinoses 17: Lysosomal Membrane Defects 8: The Gangliosidoses 5: Classification of Lysosomal Storage Diseases 24: The Patient Perspective on Rare Diseases 12: The Mucopolysaccharidoses
3: Laboratory Diagnosis of Lysosomal Storage Diseases
Related posts: 18: Neuronal Ceroid Lipofuscinoses 17: Lysosomal Membrane Defects 8: The Gangliosidoses 5: Classification of Lysosomal Storage Diseases 24: The Patient Perspective on Rare Diseases 12: The Mucopolysaccharidoses
Gastrointestinal Disease and Nutrition
Age Changes 1. Impairment of smell and taste can further reduce poor appetite. 2. Older people cannot open their mouths as wide and chew with less power than younger people….
Cardiovascular Disorders
Age Changes 1. Loss of cardiac myocytes secondary to apoptosis, with compensatory hypertrophy of remaining cells. 2. Accumulation of intracellular lipofuscin and extracellular amyloid. 3. Increased intercellular collagen, leading to…
