Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI?
نویسندگان
چکیده
منابع مشابه
Can Macrosomia Be Prevented?
Objective: To determine whether strict glycemic control during pregnancy combined with elective early induction of labor reduces the rate of macrosomia, birth trauma, and it’s influences on the C/S rate. Materials and Methods: Data were collected on the outcome of gestational diabetes (GDM) from 1/1980 to 12/1998. We investigated the relationship between mode of delivery, macrosomia (>4000 g), ...
متن کاملImproved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry
Tandem mass spectrometry for the multiplex and quantitative analysis of enzyme activities in dried blood spots on newborn screening cards has emerged as a powerful technique for early assessment of lysosomal storage diseases. Here we report the design and process-scale synthesis of substrates for the enzymes α-l-iduronidase, iduronate-2-sulfatase, and N-acetylgalactosamine-4-sulfatase that are ...
متن کاملMucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the X...
متن کاملMucopolysaccharidosis VI
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysp...
متن کاملManagement guidelines for mucopolysaccharidosis VI.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controll...
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2016
ISSN: 1875-9572
DOI: 10.1016/j.pedneo.2015.04.015