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Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project

Osteoarthritis and cartilage, 2018-08, Vol.26 (8), p.1078-1086

2018

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Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis

Scandinavian journal of clinical and laboratory investigation, 2004-02, Vol.64 (1), p.57-62

2004

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Serum Chitotriosidase Levels in Patients with Allergic and Non-Allergic Asthma

Respiration, 2010-01, Vol.79 (5), p.437-438

2010

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Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

Acta dermato-venereologica, 2019-07, Vol.99 (9), p.828-830

2019

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GM2 gangliosidosis variant B1: Neuroradiological findings

Journal of neurology, 2003, Vol.250 (1), p.17-21

2003

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A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease

Human mutation, 1995, Vol.6 (3), p.260-262

1995

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G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.561-562

2009

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Free sialic acid storage disease: a new Italian case

European journal of pediatrics, 1987-03, Vol.146 (2), p.195-198

1987

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Pathogenic Mechanism, Prophylaxis, and Therapy of Symptomatic Acidosis Induced by Acetazolamide

Journal of investigative medicine, 2002-03, Vol.50 (2), p.125-132

2002

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Biochemical diagnosis of Canavan disease

Child's nervous system, 1992-12, Vol.8 (8), p.468-470

1992

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Direct transfer in vitro of α-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with α-mannosidosis

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.277-279

1990

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Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes

Journal of inherited metabolic disease, 1988-06, Vol.11 (S2), p.263-266

1988

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Global developmental delay, osteopenia and ectodermal defect: A new syndrome

Brain & development (Tokyo. 1979), 2006-04, Vol.28 (3), p.155-161

2006

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Multiple Neuroendocrine Disorder in Salla Disease

Journal of child neurology, 2001-10, Vol.16 (10), p.775-777

2001

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Properties of an E. coli O26 mutant with modified cell wall and improved efficiency as recipient in conjugation for an FII plasmid

Microbiologica, 1984-07, Vol.7 (3), p.203

1984

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Two different types of conjugation-prone recipients for an FII plasmid in populations of an E. coli O26 strain

Microbiologica, 1984-04, Vol.7 (2), p.141

1984

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Unusual phenotype of cystic fibrosis patient, compound-heterozygous for 2789+5G→A/ΔF508 mutations

Respiratory medicine CME, 2008, Vol.1 (2), p.85-86

2008

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Direct transferin vitro ofα‐d‐mannosidase activity from normal lymphocytes to fibroblasts of a patient withα‐mannosidosis

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.277-279

1990

Volltextzugriff (PDF)

Results of a screening project for congenital hypothyroidism in 4 years of experience

La Pediatria medica e chirurgica, 1982-11, Vol.4 (6), p.657

1982

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VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Human mutation, 2014-08, Vol.35 (8), p.983-989

2014

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Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Neuromuscular disorders : NMD, 2009-12, Vol.19 (12), p.837-840

2009

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Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project

Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis

Serum Chitotriosidase Levels in Patients with Allergic and Non-Allergic Asthma

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

GM2 gangliosidosis variant B1: Neuroradiological findings

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease

G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Free sialic acid storage disease: a new Italian case

Pathogenic Mechanism, Prophylaxis, and Therapy of Symptomatic Acidosis Induced by Acetazolamide

Biochemical diagnosis of Canavan disease

Direct transfer in vitro of α-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with α-mannosidosis

Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes

Global developmental delay, osteopenia and ectodermal defect: A new syndrome

Multiple Neuroendocrine Disorder in Salla Disease

Properties of an E. coli O26 mutant with modified cell wall and improved efficiency as recipient in conjugation for an FII plasmid

Two different types of conjugation-prone recipients for an FII plasmid in populations of an E. coli O26 strain

Unusual phenotype of cystic fibrosis patient, compound-heterozygous for 2789+5G→A/ΔF508 mutations

Direct transferin vitro ofα‐d‐mannosidase activity from normal lymphocytes to fibroblasts of a patient withα‐mannosidosis

Results of a screening project for congenital hypothyroidism in 4 years of experience

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

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