Haemolytic transfusion reactions
Mrs H was a regular plasmapheresis donor. On the day in question, after she had given blood and before her red cells were returned to her, she was asked to…
Some unfavourable effects of transfusion
The high fever that regularly follows transfusion of some multiparous women and patients who have received many transfusions is often associated with serum leucocyte antibodies; mild febrile reactions, observed after…
Plasma fractionation and fractionation products
Albumin was the only plasma concentrate used in World War II. However the other plasma fractions were retained and analyzed later. An entire industry which now involves tons of plasma…
12: The Mucopolysaccharidoses
Case history A 6-year-old boy was taken to the doctor to review the skeletal X-rays, requested on the previous consultation. The mother reported that pregnancy and birth were uneventful. The…
21: Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier
2 Department of Paediatrics, University of Padova, Padova, Italy Introduction Of the 50 or more described lysosomal storage diseases (LSDs) the majority are neuronopathic and associated with profound neurodegeneration. The…
16: Multiple Enzyme Deficiencies
2 Department of Biochemistry, Children’s Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany 16.2 Multiple Sulfatase Deficiency Graciana Diez-Roux and Andrea Ballabio Telethon Institute of Genetics and Medicine , Naples ,…
9: Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy
2 Department of Neurology, Thomas Jefferson University, and Jefferson Medical College, Philadelphia, PA, USA3 Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen, Germany MLD and GLD Metachromatic…
5: Classification of Lysosomal Storage Diseases
Table 5.1 Classification of lysosomal storage diseases.
