The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
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A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VIIHand and foot abnormalities associated with genetic diseasesManagement of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with MucopolysaccharidosesHearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey.Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.Anthropometric characteristics of four Polish children with mucopolysaccharidosis.A review of gene therapy in canine and feline models of lysosomal storage disorders.Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)Neuroinflammatory paradigms in lysosomal storage diseases.Differential expression of matrix metalloproteinases in the serum of patients with mucopolysaccharidoses.A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders.The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry.Imaging findings of mucopolysaccharidoses: a pictorial reviewMusculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation.Management of otolaryngological manifestations in mucopolysaccharidoses: our experience.Severity score system for progressive myelopathy: development and validation of a new clinical scale.Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis.Emerging drugs for lysosomal storage diseases.Diagnosis of the mucopolysaccharidoses.Brain and spinal MR imaging findings in mucopolysaccharidoses: a review.Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity.Spinal involvement in mucopolysaccharidoses: a review.Epidemiology of mucopolysaccharidoses.Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.Involvement of the Anterior Segment of the Eye in Patients with Mucopolysaccharidoses: A Review of Reported Cases and Updates on the Latest Diagnostic Instrumentation.Cutaneous Manifestations of Mucopolysaccharidoses.Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.The face of lysosomal storage disorders in India: a need for early diagnosis.Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential.Unresolving short stature in a possible case of mucopolysccharidosisMolecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.Echocardiographic study of paediatric patients with mucopolysaccharidosis.Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families.Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center.Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.Alterations in speech and voice in patients with mucopolysaccharidoses.
P2860
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P2860
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
The mucopolysaccharidoses: a h ...... iable pediatric presentations.
@ast
The mucopolysaccharidoses: a h ...... iable pediatric presentations.
@en
type
label
The mucopolysaccharidoses: a h ...... iable pediatric presentations.
@ast
The mucopolysaccharidoses: a h ...... iable pediatric presentations.
@en
prefLabel
The mucopolysaccharidoses: a h ...... iable pediatric presentations.
@ast
The mucopolysaccharidoses: a h ...... iable pediatric presentations.
@en
P1476
The mucopolysaccharidoses: a h ...... iable pediatric presentations.
@en
P2093
Joseph Muenzer
P304
P356
10.1016/J.JPEDS.2004.01.052
P407
P433
P577
2004-05-01T00:00:00Z