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Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient

Genetic testing and molecular biomarkers, 2010-02, Vol.14 (1), p.113

2010

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Chronic Diarrhea in Mucopolysaccharidosis IIIB

Journal of pediatric gastroenterology and nutrition, 2009-10, Vol.49 (4), p.477-480

2009

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A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency

Journal of nephrology, 2012-07, Vol.25 (4), p.582-585

2012

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Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

Biotechnology and applied biochemistry, 2008-03, Vol.49 (3), p.219-223

2008

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An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene

American journal of medical genetics, 2005-02, Vol.133A (1), p.85-89

2005

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The role of cell adhesion in retinoic acid-induced modulation of chondrocyte phenotype

Biochemical journal, 1996-01, Vol.313 ( Pt 1) (1), p.201-206

1996

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TISSUE TRANSGLUTAMINASE EXPRESSION IN QUAIL EPIPHYSEAL CHONDROCYTES

Cell biology international, 1999-01, Vol.23 (1), p.41-49

1999

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Avian myelocytomatosis virus immortalizes differentiated quail chondrocytes

Proceedings of the National Academy of Sciences - PNAS, 1985-05, Vol.82 (9), p.2756-2760

1985

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The culture of chick embryo chondrocytes and the control of their differentiated functions in vitro: I. Characterization of the chondrocyte-specific phenotypes

Experimental cell research, 1982, Vol.142 (1), p.197-206

1982

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An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene

American Journal of Medical Genetics Part A, 2005, Vol.133A (1), p.85-89

2005

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Sanfilippo B syndrome (MPS III B): Altered residual α- N-acetylglucosaminidase activity in an unusual sibship

Clinica chimica acta, 1982-07, Vol.122 (2), p.135-143

1982

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Endobronchial hamartoma in a young COVID-19 symptomatic woman. Radical endoscopic treatment with a disposable bronchoscope. Case Report

Monaldi archives for chest disease, 2021-12, Vol.92 (3)

2021

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Cartilage - Cytology
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Cell Differentiation
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Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient

Chronic Diarrhea in Mucopolysaccharidosis IIIB

A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene

The role of cell adhesion in retinoic acid-induced modulation of chondrocyte phenotype

TISSUE TRANSGLUTAMINASE EXPRESSION IN QUAIL EPIPHYSEAL CHONDROCYTES

Avian myelocytomatosis virus immortalizes differentiated quail chondrocytes

The culture of chick embryo chondrocytes and the control of their differentiated functions in vitro: I. Characterization of the chondrocyte-specific phenotypes

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene

Sanfilippo B syndrome (MPS III B): Altered residual α- N-acetylglucosaminidase activity in an unusual sibship

Endobronchial hamartoma in a young COVID-19 symptomatic woman. Radical endoscopic treatment with a disposable bronchoscope. Case Report

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