Pages that link to "Q27025080"
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The following pages link to Newborn screening and diagnosis of mucopolysaccharidoses (Q27025080):
Displaying 50 items.
- Sanfilippo syndrome: causes, consequences, and treatments (Q26773200) (← links)
- Therapies for the bone in mucopolysaccharidoses (Q26852308) (← links)
- Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms (Q28975748) (← links)
- Hematopoietic stem cell transplantation for Morquio A syndrome (Q30809579) (← links)
- A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study. (Q33672920) (← links)
- Glycosaminoglycans detection methods: Applications of mass spectrometry (Q33816146) (← links)
- Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs (Q33915327) (← links)
- Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome. (Q33923815) (← links)
- Assay for Glycosaminoglycans by Tandem Mass Spectrometry and its Applications (Q33945288) (← links)
- Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses (Q34257650) (← links)
- Establishment of glycosaminoglycan assays for mucopolysaccharidoses (Q34318230) (← links)
- Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (Q34373560) (← links)
- Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. (Q34459501) (← links)
- Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions? (Q34633246) (← links)
- Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry (Q35000585) (← links)
- Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation (Q35034318) (← links)
- Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements (Q35104361) (← links)
- Newborn screening for lysosomal storage diseases (Q35134207) (← links)
- Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome. (Q35319254) (← links)
- Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB. (Q35752500) (← links)
- Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations. (Q36677856) (← links)
- Activity of daily living for Morquio A syndrome. (Q37243265) (← links)
- Mucopolysaccharidosis IVA and glycosaminoglycans. (Q37626886) (← links)
- Mucopolysaccharidoses (Q38165092) (← links)
- Lysosomal diseases: diagnostic update (Q38202920) (← links)
- Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations (Q38924874) (← links)
- Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study (Q39436172) (← links)
- Tandem mass spectroscopy in diagnosis and clinical research (Q39516423) (← links)
- Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity (Q41468321) (← links)
- Biomarkers in Lysosomal Storage Diseases (Q42226765) (← links)
- Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome). (Q45874778) (← links)
- Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry (Q48484381) (← links)
- Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study. (Q50091980) (← links)
- Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome. (Q50634794) (← links)
- Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy. (Q50642537) (← links)
- Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. (Q52647390) (← links)
- Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. (Q54987125) (← links)
- Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report (Q57165341) (← links)
- Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease (Q57279815) (← links)
- Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) (Q58580608) (← links)
- Newborn screening in mucopolysaccharidoses (Q59340089) (← links)
- Biomarkers in patients with mucopolysaccharidosis type II and IV (Q61799365) (← links)
- Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases (Q61816865) (← links)
- International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome (Q64043013) (← links)
- Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe (Q64100043) (← links)
- [Laboratory diagnosis and follow up of mucopolysaccharidoses] (Q87447104) (← links)
- Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA (Q88741300) (← links)
- Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis (Q88741305) (← links)
- Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment (Q89762313) (← links)
- Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature (Q89862455) (← links)