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Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
Sidney Farber (September 30, 1903 – March 30, 1973) was an American pediatric pathologist.He is regarded as the father of modern chemotherapy for his work using folic acid antagonists to combat leukemia, which led to the development of other chemotherapeutic agents against other malignancies.
Doss porphyria/ALA dehydratase deficiency/Plumboporphyria (the disease is known by multiple names) DPT Diphtheria, pertussis, tetanus: DRSP disease Drug-resistant Streptococcus pneumoniae disease DS Down syndrome: DSPS Delayed sleep phase syndrome: DTs Delirium tremens: DVD Developmental verbal dyspraxia: DVT Deep vein thrombosis
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
As an autosomal recessive disease, 1 in 40,000 equates to a 1 in 100 carrier frequency in the general population. [14] In the US, there are an estimated 3,600 MLD births per year, with 1,900 alive; in Europe 3,100, and worldwide 49,000 alive. [14] MLD is considered a rare disease in the US and other countries. [citation needed]
Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules [1] of the kidney. It is one cause of Fanconi syndrome , and is characterized by tubular proteinuria , excess calcium in the urine , formation of calcium kidney stones , nephrocalcinosis , and chronic kidney failure .
Williams raised millions for the disease. [7] After being discharged in 1948, Gustafson visited the Children's Hospital for follow-up treatments; getting rides from his Uncle in his pick-up truck from Maine to Boston. Dr. Farber privately kept in touch with Gustafson until he suffered a heart attack in his office in 1973. [7]
The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, [2] [3] with the United States and Northern European populations having slightly higher frequency with an occurrence of ...