منابع مشابه
Newborn screening and diagnosis of mucopolysaccharidoses.
Mucopolysaccharidoses (MPS) are caused by deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and hyaluronan. Their catabolism may be blocked singly or in combination dependi...
متن کاملA Universal Newborn Hearing Screening in Iran
Objectives: In September 2002 University of Social Welfare & Rehabilitation Sciences established a pilot universal newborn hearing screening program in two crowded maternity hospital in Tehran. Our objective was to assess the feasibility of implementing universal newborn hearing screening in IRAN. Methods: Between September 2002 and March 2004 a total of 7718 newborns were screened for heari...
متن کاملNewborn screening in Japan.
In the 1970's, the government began to take steps for the treatment of congenital diseases. Mass newborn screening was started in October 1977 throughout Japan in order to detect five inborn errors of metabolism including phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia. In 1979, mass screening for congenital hypothyroidism was added to the original pro...
متن کاملNewborn screening in Indonesia.
In Indonesia, newborn screening is not yet a policy, and the incidence of preventable causes of mental retardation detected by newborn screening is not known. Congenital hypothyroidism (CH) is not infrequent. Without a screening program, unrecognized CH patients were neglected for years. Since May 1999, the International Atomic Energy Agency (IAEA) has assisted in starting a CH Newborn Screenin...
متن کاملNewborn Screening in India.
Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary bloo...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2018
ISSN: 1824-7288
DOI: 10.1186/s13052-018-0552-3