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Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

The New England journal of medicine, 2008-03, Vol.358 (10), p.1018-1028

2008

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Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein

American journal of human genetics, 2000-02, Vol.66 (2), p.378-392

2000

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Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults

Clinical endocrinology (Oxford), 2006-05, Vol.64 (5), p.489-494

2006

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Genetic homogeneity of autoimmune polyglandular disease type I

American journal of human genetics, 1996-10, Vol.59 (4), p.879-886

1996

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The Finnish disease heritage: a personal look

Acta Paediatrica, 1995-10, Vol.84 (10), p.1094-1099

Perheentupa, J

1995

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Prevalence and Clinical Associations of 10 Defined Autoantibodies in Autoimmune Polyendocrine Syndrome Type I

The journal of clinical endocrinology and metabolism, 2004-02, Vol.89 (2), p.557-562

2004

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Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes

Blood, 2008-10, Vol.112 (7), p.2657-2666

2008

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Follow up of growth and steroids in premature adrenarche

European journal of pediatrics, 1995-05, Vol.154 (5), p.346-352

1995

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Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

Clinical immunology (Orlando, Fla.), 2008-10, Vol.129 (1), p.163-169

2008

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Decreased susceptibility of Candida albicans to azole antifungals: a complication of long-term treatment in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients

Journal of antimicrobial chemotherapy, 2007-10, Vol.60 (4), p.889-892

2007

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Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis

Diagnostic microbiology and infectious disease, 2008-10, Vol.62 (2), p.182-185

2008

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An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

Nature genetics, 1994-09, Vol.8 (1), p.83-87

1994

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Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Nature genetics, 2000-07, Vol.25 (3), p.298-301

2000

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Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I : Autoimmune polyendocrine type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity

Journal of internal medicine, 2009, Vol.265 (5), p.514-529

2009

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Identification of tryptophan hydroxylase as an intestinal autoantigen

The Lancet (British edition), 1998-07, Vol.352 (9124), p.279-283

1998

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Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

The New England journal of medicine, 1990-06, Vol.322 (26), p.1829-1836

1990

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Epidermal growth factor is a constant component of normal human tear fluid

Graefe's archive for clinical and experimental ophthalmology, 1989-03, Vol.227 (2), p.184-187

1989

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Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Gastroenterology (New York, N.Y. 1943), 2001-09, Vol.121 (3), p.668-677

2001

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Mulibrey heart disease: Clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985

Circulation (New York, N.Y.), 2003-06, Vol.107 (22), p.2810-2815

2003

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Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED)

Clinical and experimental immunology, 2000-03, Vol.119 (3), p.419-425

2000

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The parotid gland is the main source of human salivary epidermal growth factor

Life sciences (1973), 1988, Vol.43 (1), p.13-18

1988

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The Hypoparathyroidism of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Protective Effect of Male Sex

The journal of clinical endocrinology and metabolism, 2003-10, Vol.88 (10), p.4602-4608

2003

Volltextzugriff (PDF)

Tracking of serum cholesterol and lipoprotein levels from the first year of life

Pediatrics (Evanston), 1993-05, Vol.91 (5), p.949

1993

Volltextzugriff (PDF)

Histidine Decarboxylase, a Pyridoxal Phosphate-Dependent Enzyme, Is an Autoantigen of Gastric Enterochromaffin-Like Cells

The journal of clinical endocrinology and metabolism, 2003-04, Vol.88 (4), p.1445-1452

2003

Volltextzugriff (PDF)

Low Colostral IgA Associated with Cow's Milk Allergy

Acta Paediatrica, 1991-12, Vol.80 (12), p.1207-1213

1991

Volltextzugriff (PDF)

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Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein

Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults

Genetic homogeneity of autoimmune polyglandular disease type I

The Finnish disease heritage: a personal look

Prevalence and Clinical Associations of 10 Defined Autoantibodies in Autoimmune Polyendocrine Syndrome Type I

Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes

Follow up of growth and steroids in premature adrenarche

Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

Decreased susceptibility of Candida albicans to azole antifungals: a complication of long-term treatment in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients

Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I : Autoimmune polyendocrine type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity

Identification of tryptophan hydroxylase as an intestinal autoantigen

Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

Epidermal growth factor is a constant component of normal human tear fluid

Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Mulibrey heart disease: Clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985

Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED)

The parotid gland is the main source of human salivary epidermal growth factor

The Hypoparathyroidism of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Protective Effect of Male Sex

Tracking of serum cholesterol and lipoprotein levels from the first year of life

Histidine Decarboxylase, a Pyridoxal Phosphate-Dependent Enzyme, Is an Autoantigen of Gastric Enterochromaffin-Like Cells

Low Colostral IgA Associated with Cow's Milk Allergy

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