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Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up

Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.371-380

2009

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Identification of GP2, the major zymogen granule membrane glycoprotein, as the autoantigen of pancreatic antibodies in Crohn’s disease

Gut, 2009-12, Vol.58 (12), p.1620-1628

2009

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IL10 promoter haplotypes may contribute to altered cytokine expression and systemic inflammation in celiac disease

Clinical immunology (Orlando, Fla.), 2018-05, Vol.190, p.15-21

2018

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Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

Human genetics, 1997-12, Vol.101 (3), p.376-382

1997

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Emphysematous gastritis caused by Sarcina ventriculi

Gastrointestinal endoscopy, 2010-11, Vol.72 (5), p.1101-1103

2010

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Akute Pankreatitis im Kindesalter: Epidemiologische Untersuchungsergebnisse einer 10-Jahres-Analyse und Berichte aus der Literatur

Monatsschrift Kinderheilkunde, 2006-03, Vol.154 (3), p.245-250

2006

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Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant

Pediatric nephrology (Berlin, West), 2004-06, Vol.19 (6), p.602-608

2004

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Exocrine pancreatic insufficiency and its consequences on physical development and metabolism in children and adolescents with type 1 diabetes mellitus

European journal of pediatrics, 2004-11, Vol.163 (11), p.681-682

2004

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Influence of CARD15 Mutations on Disease Activity and Response to Therapy in 65 Pediatric Crohn Patients from Saxony, Germany

Journal of pediatric gastroenterology and nutrition, 2005-07, Vol.41 (1), p.27-32

2005

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Orbital inflammation and colitis in pediatric IgG4-related disease: A case report and review of the literature

European journal of rheumatology, 2020-02, Vol.7 (Suppl1), p.S21-27

2020

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Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108118-108118, Article 108118

2024

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Autoantibodies Against Glycoprotein 2 Isoforms in Pediatric Patients with Inflammatory Bowel Disease

Inflammatory bowel diseases, 2017-09, Vol.23 (9), p.1624-1636

2017

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Probiotic Escherichia coli Nissle 1917 Versus Placebo for Treating Diarrhea of Greater Than 4 Days Duration in Infants and Toddlers

The Pediatric infectious disease journal, 2008-06, Vol.27 (6), p.494-499

2008

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Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Genetics in medicine, 2020-03, Vol.22 (3), p.610-621

2020

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Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN

European journal of pediatrics, 2008-06, Vol.167 (6), p.671-675

2008

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Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN

European journal of pediatrics, 2008-06, Vol.167 (6), p.671-675

2008

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Epidemiology and care structures for children and adolescents and young adults up to the 26th year of life with inflammatory bowel diseases (IBD) in Leipzig/Saxony/Germany

Journal of public health, 2018-08, Vol.26 (4), p.437-442

2018

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Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9

Pediatric research, 2006-02, Vol.59 (2), p.325-331

2006

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Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation

Journal of investigative dermatology, 2017-02, Vol.137 (2), p.403-413

2017

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Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up

Identification of GP2, the major zymogen granule membrane glycoprotein, as the autoantigen of pancreatic antibodies in Crohn’s disease

IL10 promoter haplotypes may contribute to altered cytokine expression and systemic inflammation in celiac disease

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

Emphysematous gastritis caused by Sarcina ventriculi

Akute Pankreatitis im Kindesalter: Epidemiologische Untersuchungsergebnisse einer 10-Jahres-Analyse und Berichte aus der Literatur

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant

Exocrine pancreatic insufficiency and its consequences on physical development and metabolism in children and adolescents with type 1 diabetes mellitus

Influence of CARD15 Mutations on Disease Activity and Response to Therapy in 65 Pediatric Crohn Patients from Saxony, Germany

Orbital inflammation and colitis in pediatric IgG4-related disease: A case report and review of the literature

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

Autoantibodies Against Glycoprotein 2 Isoforms in Pediatric Patients with Inflammatory Bowel Disease

Probiotic Escherichia coli Nissle 1917 Versus Placebo for Treating Diarrhea of Greater Than 4 Days Duration in Infants and Toddlers

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN

Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN

Epidemiology and care structures for children and adolescents and young adults up to the 26th year of life with inflammatory bowel diseases (IBD) in Leipzig/Saxony/Germany

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9

Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation

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