Papers & Publications

For links to relevant scientific publications and abstracts, please see below.
(subscriptions may be required to access full text of certain publications):

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

Bone

ENPP1

Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults 03/30/2023

Bone

ENPP1

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases 12/02/2022

Orphanet Journal of Rare Diseases

ENPP1

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database 09/23/2022

Human Mutation

ENPP1

Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective 07/27/2022

PLOS ONE

ENPP1

A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method 09/09/2021

The Journal of Clinical Endocrinology and Metabolism

ABCC6

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency 07/09/2021

Science Direct

ENPP1

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiency 05/08/2021

The Journal of Bone and Mineral Research

ENPP1

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiency 05/08/2021

Circulation: Genomic and Precision Medicine

ENPP1

INZ‐701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1‐Deficient Mice 04/26/2021

The Journal of Bone and Mineral Research

ENPP1

New perspectives on rare connective tissue calcifying diseases 02/27/2021

Current Opinion in Pharmacology

ENPP1

Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice 01/19/2021

Journal of Bone and Mineral Research

ENPP1

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) 10/02/2020

Genetics in Medicine

ENPP1

Visual Acuity in Pseudoxanthoma Elasticum 08/01/2019

The Journal RETINA

ABCC6

Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders 02/01/2019

Science Direct

ABCC6

ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP 10/29/2018

Experimental & Molecular Medicine

ENPP1

Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum 02/28/2018

Journal of Investigative Dermatology

ABCC6

Pyrophosphate: a key inhibitor of mineralization 04/07/2016

Current Opinion in Pharmacology

ENPP1

ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy 12/01/2015

Nature Communications

ENPP1

The vascular phenotype in pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification 02/12/2013

Frontiers in Genetics

ABCC6

New insights into NPP1 function: Lessons from clinical and animal studies 07/26/2012

Science Direct

ENPP1

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 12/29/2011

The American Journal of Human Genetics (AJHG)

ABCC6

Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations 09/01/2010

Pediatric and Developmental Pathology

ENPP1

Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy 12/01/2008

Circulation: Genomic and Precision Medicine

ENPP1

Can biological calcification occur in the presence of pyrophosphate? 05/15/1984

Current Opinion in Pharmacology

ENPP1

No Publications Found

At the Forefront of Transformative Therapies

Inozyme is a leader in developing therapies for rare diseases.

Papers & Publications

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults 03/30/2023

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases 12/02/2022

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database 09/23/2022

Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective 07/27/2022

A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method 09/09/2021

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency 07/09/2021

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiency 05/08/2021

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiency 05/08/2021

INZ‐701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1‐Deficient Mice 04/26/2021

New perspectives on rare connective tissue calcifying diseases 02/27/2021

Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice 01/19/2021

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) 10/02/2020

Visual Acuity in Pseudoxanthoma Elasticum 08/01/2019

Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders 02/01/2019

ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP 10/29/2018

Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum 02/28/2018

Pyrophosphate: a key inhibitor of mineralization 04/07/2016

ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy 12/01/2015

The vascular phenotype in pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification 02/12/2013

New insights into NPP1 function: Lessons from clinical and animal studies 07/26/2012

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 12/29/2011

Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations 09/01/2010

Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy 12/01/2008

Can biological calcification occur in the presence of pyrophosphate? 05/15/1984

At the Forefront of Transformative Therapies

Inozyme is a leader in developing therapies for rare diseases.

Pipeline

Papers & Publications

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults 03/30/2023

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases 12/02/2022

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database 09/23/2022

Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective 07/27/2022

A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method 09/09/2021

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency 07/09/2021

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiency 05/08/2021

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiency 05/08/2021

INZ‐701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1‐Deficient Mice 04/26/2021

New perspectives on rare connective tissue calcifying diseases 02/27/2021

Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice 01/19/2021

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) 10/02/2020

Visual Acuity in Pseudoxanthoma Elasticum 08/01/2019

Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders 02/01/2019

ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP 10/29/2018

Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum 02/28/2018

Pyrophosphate: a key inhibitor of mineralization 04/07/2016

ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy 12/01/2015

The vascular phenotype in pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification 02/12/2013

New insights into NPP1 function: Lessons from clinical and animal studies 07/26/2012

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 12/29/2011

Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations 09/01/2010

Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy 12/01/2008

Can biological calcification occur in the presence of pyrophosphate? 05/15/1984