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Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

British journal of dermatology (1951), 2012-04, Vol.166 (4), p.712-720

2012

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Functional studies of new GLA gene mutations leading to conformational fabry disease

Biochimica et biophysica acta, 2010-02, Vol.1802 (2), p.247-252

2010

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Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy

Clinical and experimental obstetrics & gynecology, 2015-01, Vol.42 (1), p.108-113

2015

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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene

Clinical genetics, 2012-03, Vol.81 (3), p.224-233

2012

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Mutation identification of Fabry disease in families with other lysosomal storage disorders

Clinical genetics, 2013-09, Vol.84 (3), p.281-285

2013

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Serum Interleukin-18 in Children with Henoch-Schönlein Purpura: A Promising Marker of Disease Activity?

European journal of inflammation, 2011-05, Vol.9 (2), p.151-156

2011

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Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

Journal of medical genetics, 2003-08, Vol.40 (8), p.e103-103

2003

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Gene symbol: FAH. Disease: tyrosinaemia 1

Human genetics, 2005-12, Vol.118 (3-4), p.537-537

2005

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Prevalence of fabry disease in female patients with late-onset hypertrophic cardiomyopathy

Circulation (New York, N.Y.), 2004-08, Vol.110 (9), p.1047-1053

2004

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H. PYLORI INFECTION AND SMALL INTESTINE BACTERIAL OVERGROWTH IN PATIENTS WITH FABRY' DISEASE: DO THEY ENHANCE THE EXPRESSION OF FABRY'-RELATED GASTROINTESTINAL SYMPTOMS?

Digestive and liver disease, 2009, Vol.41, p.S142-S142

2009

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PA.186 FABRY DISEASE AND SMALL INTESTINAL BACTERIAL OVERGROWTH: PREVALENCE AND CORRELATION WITH GASTROINTESTINAL SYMPTOMS

Digestive and liver disease, 2008, Vol.40, p.S143-S144

2008

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Two novel mutations in the gene for human α‐mannosidase that cause α‐mannosidosis

Journal of inherited metabolic disease, 2003-01, Vol.26 (8), p.819-820

2003

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Urinary excretion of glycosaminoglycans in patients with isolated nocturnal enuresis or combined with diurnal incontinence

BJU international, 2000-11, Vol.86 (7), p.824-825

2000

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Angiokeratoma: decision-making aid for the diagnosis of Fabry disease: Angiokeratoma, proposal for a diagnostic algorithm

British journal of dermatology (1951), 2012-04, Vol.166 (4), p.712-720

2012

Volltextzugriff (PDF)

Angiokeratoma: Decision Making Methodology for the Diagnosis of Fabry Disease

British journal of dermatology (1951), 2011-11, p.no-no

2011

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Cervical myelopathy in mucopolysaccharidosis type IV

Clinical neuropathology, 1999-03, Vol.18 (2), p.84

1999

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Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method

Human mutation, 2005-05, Vol.25 (5), p.491-497

2005

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Enzyme replacement therapy and renal function in 201 patients with Fabry disease

Clinical nephrology, 2006-08, Vol.66 (2), p.77

2006

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Functional assessment of Aδ and C fibers in patients with Fabry's disease

Muscle & nerve, 2004-12, Vol.30 (6), p.708-713

2004

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Glycosaminoglycans: Urinary Excretion in Children with Myelomeningocele

Urologia internationalis, 2001-01, Vol.66 (3), p.156-159

2001

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Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma

Annals of emergency medicine, 2003-01, Vol.41 (1), p.104-109

2003

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SERUM INTERLEUKIN-18 IN CHILDREN WITH HENOCH-SCHOeNLEIN PURPURA: A PROMISING MARKER OF DISEASE ACTIVITY?

European journal of inflammation, 2011-08, Vol.9 (2), p.151-156

2011

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Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey

International journal of clinical practice (Esher), 2006-09, Vol.60 (9), p.1053-1059

2006

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Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl

Pediatric radiology, 1995-06, Vol.25 (4), p.303-305

1995

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Two novel mutations in the gene for human [alpha]-mannosidase that cause [alpha]-mannosidosis

Journal of inherited metabolic disease, 2003-12, Vol.26 (8), p.819

2003

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Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

Functional studies of new GLA gene mutations leading to conformational fabry disease

Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene

Mutation identification of Fabry disease in families with other lysosomal storage disorders

Serum Interleukin-18 in Children with Henoch-Schönlein Purpura: A Promising Marker of Disease Activity?

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

Gene symbol: FAH. Disease: tyrosinaemia 1

Prevalence of fabry disease in female patients with late-onset hypertrophic cardiomyopathy

H. PYLORI INFECTION AND SMALL INTESTINE BACTERIAL OVERGROWTH IN PATIENTS WITH FABRY' DISEASE: DO THEY ENHANCE THE EXPRESSION OF FABRY'-RELATED GASTROINTESTINAL SYMPTOMS?

PA.186 FABRY DISEASE AND SMALL INTESTINAL BACTERIAL OVERGROWTH: PREVALENCE AND CORRELATION WITH GASTROINTESTINAL SYMPTOMS

Two novel mutations in the gene for human α‐mannosidase that cause α‐mannosidosis

Urinary excretion of glycosaminoglycans in patients with isolated nocturnal enuresis or combined with diurnal incontinence

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease: Angiokeratoma, proposal for a diagnostic algorithm

Angiokeratoma: Decision Making Methodology for the Diagnosis of Fabry Disease

Cervical myelopathy in mucopolysaccharidosis type IV

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method

Enzyme replacement therapy and renal function in 201 patients with Fabry disease

Functional assessment of Aδ and C fibers in patients with Fabry's disease

Glycosaminoglycans: Urinary Excretion in Children with Myelomeningocele

Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma

SERUM INTERLEUKIN-18 IN CHILDREN WITH HENOCH-SCHOeNLEIN PURPURA: A PROMISING MARKER OF DISEASE ACTIVITY?

Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey

Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl

Two novel mutations in the gene for human [alpha]-mannosidase that cause [alpha]-mannosidosis

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