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Chilblain lesions associated with inherited autoimmune disease

British journal of dermatology (1951), 2015-12, Vol.173 (6), p.1369-1370

Rutsch, F.

2015

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Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.181-181, Article 181

2019

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Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up

Molecular genetics and metabolism, 2019-03, Vol.126 (3), p.246-249

2019

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Severe early‐onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate

British journal of dermatology (1951), 2020-08, Vol.183 (2), p.367-372

2020

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Children and adolescents with phenylketonuria display fluctuations in their blood phenylalanine levels

Acta Paediatrica, 2019-03, Vol.108 (3), p.541-543

2019

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New insights into NPP1 function: Lessons from clinical and animal studies

Bone (New York, N.Y.), 2012-11, Vol.51 (5), p.961-968

2012

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Neurocognitive functioning in adults with phenylketonuria: Results of a long term study

Molecular genetics and metabolism, 2013, Vol.110, p.S44-S48

2013

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Decreased levels of nucleotide pyrophosphatase phosphodiesterase 1 are associated with cartilage calcification in osteoarthritis and trigger osteoarthritic changes in mice

Annals of the rheumatic diseases, 2012-07, Vol.71 (7), p.1249-1253

2012

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Mutations in CRLF1 cause familial achalasia

Clinical genetics, 2017-07, Vol.92 (1), p.104-108

2017

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An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy

American journal of medical genetics. Part A, 2010-01, Vol.152A (1), p.118-123

2010

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Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts

Current osteoporosis reports, 2017-08, Vol.15 (4), p.255-270

2017

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Parallels between arterial and cartilage calcification: what understanding artery calcification can teach us about chondrocalcinosis

Current opinion in rheumatology, 2003-05, Vol.15 (3), p.302-310

2003

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Loss of NPP1 induces cartilage remodelling into bone and OA-like changes in mice

Annals of the rheumatic diseases, 2011-03, Vol.70 (Suppl 2), p.A18-A18

2011

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200 CYTOKINES DOWNREGULATE NPPl AND THEREFORE INDUCE CARTILAGE MINERALIZATION IN OA

Osteoarthritis and cartilage, 2011-09, Vol.19, p.S99-S99

2011

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INZ-701, a recombinant ENPP1-Fc protein, effectively treats and prevents neointimal proliferation in WT and ENPP1 Deficient mice

Cardiovascular research, 2022-06, Vol.118 (Supplement_1)

2022

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Calcification of articular cartilage in human osteoarthritis

Arthritis and rheumatism, 2009-09, Vol.60 (9), p.2694-2703

2009

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Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

Frontiers in cardiovascular medicine, 2019-01, Vol.5, p.196

2019

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BCP crystals drive chondrocyte hypertrophic differentiation via binding WNT ligands and activation of canonical WNT signaling

Osteoarthritis and cartilage, 2018-04, Vol.26, p.S62-S63

2018

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Fetal Hydrops, Hyperechogenic Arteries and Pathological Doppler Findings at 29 Weeks: Prenatal Presentation of Generalized Arterial Calcification of Infancy – A Novel Mutation in ENPP1

Fetal diagnosis and therapy, 2009-08, Vol.25 (2), p.264-268

2009

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Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

Annals of nutrition and metabolism, 2020-12, Vol.76 (4), p.251-258

2020

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Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification

Acta Paediatrica, 2000-10, Vol.89 (10), p.1265-1266

2000

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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Nature genetics, 2003-08, Vol.34 (4), p.379-381

2003

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PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

The American journal of pathology, 2001-02, Vol.158 (2), p.543-554

2001

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Le pseudoxanthome élastique est associé à une tendinopathie calcifiante de la coiffe des rotateurs de l’épaule

Annales de dermatologie et de vénéréologie, 2015-12, Vol.142 (12), p.S586-S586

2015

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Morbus Niemann-Pick Typ C: Klinik, Diagnostik und Therapie

Monatsschrift Kinderheilkunde, 2012, Vol.160 (1), p.47-54

2012

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Chilblain lesions associated with inherited autoimmune disease

Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up

Severe early‐onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate

Children and adolescents with phenylketonuria display fluctuations in their blood phenylalanine levels

New insights into NPP1 function: Lessons from clinical and animal studies

Neurocognitive functioning in adults with phenylketonuria: Results of a long term study

Decreased levels of nucleotide pyrophosphatase phosphodiesterase 1 are associated with cartilage calcification in osteoarthritis and trigger osteoarthritic changes in mice

Mutations in CRLF1 cause familial achalasia

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy

Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts

Parallels between arterial and cartilage calcification: what understanding artery calcification can teach us about chondrocalcinosis

Loss of NPP1 induces cartilage remodelling into bone and OA-like changes in mice

200 CYTOKINES DOWNREGULATE NPPl AND THEREFORE INDUCE CARTILAGE MINERALIZATION IN OA

INZ-701, a recombinant ENPP1-Fc protein, effectively treats and prevents neointimal proliferation in WT and ENPP1 Deficient mice

Calcification of articular cartilage in human osteoarthritis

Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

BCP crystals drive chondrocyte hypertrophic differentiation via binding WNT ligands and activation of canonical WNT signaling

Fetal Hydrops, Hyperechogenic Arteries and Pathological Doppler Findings at 29 Weeks: Prenatal Presentation of Generalized Arterial Calcification of Infancy – A Novel Mutation in ENPP1

Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

Le pseudoxanthome élastique est associé à une tendinopathie calcifiante de la coiffe des rotateurs de l’épaule

Morbus Niemann-Pick Typ C: Klinik, Diagnostik und Therapie

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