| Autor: |
Choudhury, Ipsita, Tilak, Mona, Patra, Arun |
| Zdroj: |
Indian Journal of Clinical Biochemistry; Jan2014, Vol. 29 Issue 1, p101-106, 6p |
| Abstrakt: |
Mucopolysaccharidosis are a group of rare metabolic disorders of the lysosomal storage disease family caused by the absence or malfunctioning of lysosomal enzymes responsible for their breakdown. It encompasses disorders in which undegraded or partly degraded glycosaminoglycans accumulate in the lysosomes of many tissues owing to a deficiency of specific lysosomal enzymes. Here we report a case of a 7 years old child displaying the symptoms of Morquio's disease (Mucopolysaccharidosis type IV). Urine screening tests were performed which gave contrasting results. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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