Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
about
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotypeAn investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III.Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIBNatural history of Sanfilippo syndrome in Spain.Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.Neuronopathic lysosomal storage diseases: clinical and pathologic findings.People with intellectual disability: what do we know about adulthood and life expectancy?Inborn errors of metabolism and expanded newborn screening: review and update.Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs.Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?Biochemical, histological and functional correction of mucopolysaccharidosis type IIIB by intra-cerebrospinal fluid gene therapy.Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments.Mortality in patients with Sanfilippo syndrome.Pathological and biochemical studies of mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B) in juvenile emus (Dromaius novaehollandiae).High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.Hyperactivity, unexplained speech delay, and coarse facies--is it Sanfilippo syndrome?A model of mucopolysaccharidosis type IIIB in pigs
P2860
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P2860
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Is Sanfilippo type B in your m ...... ation and behavioral problems?
@en
type
label
Is Sanfilippo type B in your m ...... ation and behavioral problems?
@en
prefLabel
Is Sanfilippo type B in your m ...... ation and behavioral problems?
@en
P2093
P356
P1476
Is Sanfilippo type B in your m ...... ation and behavioral problems?
@en
P2093
Henny M J van Schrojenstein Lantman-de Valk
Ingrid van Mierlo
Leo Spaapen
Leopold M G Curfs
Marian A Maaskant
P304
P356
10.1002/AJMG.C.30142
P577
2007-08-01T00:00:00Z