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Newborn Screening of Lysosomal Storage Disorders

Clinical chemistry (Baltimore, Md.), 2010-07, Vol.56 (7), p.1071-1079

2010

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Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Clinical chemistry (Baltimore, Md.), 2016-11, Vol.62 (11), p.1430-1438

2016

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Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.36-36, Article 36

2019

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Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.189-189, Article 189

2024

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Management and Progression of Arginase 1 Deficiency Over 2 Decades of Follow-up (P11-12.003)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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P276: Long-chain fatty acid oxidation disorder genotypes, clinical signs and symptoms, and newborn screening history from a gene panel sponsored program

Genetics in Medicine Open, 2023, Vol.1 (1), p.100304, Article 100304

2023

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P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program

Genetics in Medicine Open, 2024, Vol.2, p.100907, Article 100907

2024

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Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses

Molecular genetics and metabolism, 2020-05, Vol.130 (1), p.7-15

2020

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Growth patterns in patients with mucopolysaccharidosis VII

Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100987-100987, Article 100987

2023

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P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

Genetics in Medicine Open, 2024, Vol.2, p.100909, Article 100909

2024

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P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)

Genetics in Medicine Open, 2024, Vol.2, p.101157, Article 101157

2024

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P041: Real-world major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States

Genetics in Medicine Open, 2023, Vol.1 (1), p.100051, Article 100051

2023

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P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program

Genetics in Medicine Open, 2023, Vol.1 (1), p.100218, Article 100218

2023

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The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

JIMD reports, 2020-07, Vol.54 (1), p.3-8

2020

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Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening

Pediatrics (Evanston), 2008-05, Vol.121 (5), p.e1108-e1114

2008

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Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Genetics in medicine, 2021-05, Vol.23 (5), p.816-829

2021

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Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example

Advances in therapy, 2022-07, Vol.39 (7), p.3361-3377

2022

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Abstract 15278: Cardiac Assessments and Manifestations Among Individuals With Long-Chain Fatty Acid Oxidation Disorders: A Retrospective Claims Database Analysis

Circulation (New York, N.Y.), 2023-11, Vol.148 (Suppl_1)

2023

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Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.53-60

2015

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eP112 - Significant unmet need in infants with mucopolysaccharidosis VII and non-immune hydrops fetalis: a summary of cases

Molecular genetics and metabolism, 2021-04, Vol.132, p.S76-S77

2021

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Significant unmet need in infants with mucopolysaccharidosis VII and non-immune hydrops fetalis: a summary of cases

Molecular genetics and metabolism, 2021-04, Vol.132, p.S76-S77

2021

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Significant unmet need in infants with mucopolysaccharidosis type VII and non-immune hydrops fetalis: A summary of cases

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S69-S69

2021

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Clinical manifestations, healthcare resource utilization, and costs among patients with long-chain fatty acid oxidation disorders: a retrospective claims database analysis

Current medical research and opinion, 2024-09, p.1-40

2024

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LONG-CHAIN FATTY ACID OXIDATION DISORDER GENOTYPES, CLINICAL SIGNS AND SYMPTOMS, AND NEWBORN SCREENING HISTORY FROM A GENE PANEL SPONSORED PROGRAM

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107471, Article 107471

2023

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Exploring genetic diversity, clinical signs, and newborn screening results in long-chain fatty acid oxidation disorders: Insights from a gene panel sponsored program

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108248, Article 108248

2024

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Newborn Screening of Lysosomal Storage Disorders

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

Management and Progression of Arginase 1 Deficiency Over 2 Decades of Follow-up (P11-12.003)

P276: Long-chain fatty acid oxidation disorder genotypes, clinical signs and symptoms, and newborn screening history from a gene panel sponsored program

P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program

Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses

Growth patterns in patients with mucopolysaccharidosis VII

P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)

P041: Real-world major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States

P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program

The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example

Abstract 15278: Cardiac Assessments and Manifestations Among Individuals With Long-Chain Fatty Acid Oxidation Disorders: A Retrospective Claims Database Analysis

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review

eP112 - Significant unmet need in infants with mucopolysaccharidosis VII and non-immune hydrops fetalis: a summary of cases

Significant unmet need in infants with mucopolysaccharidosis VII and non-immune hydrops fetalis: a summary of cases

Significant unmet need in infants with mucopolysaccharidosis type VII and non-immune hydrops fetalis: A summary of cases

Clinical manifestations, healthcare resource utilization, and costs among patients with long-chain fatty acid oxidation disorders: a retrospective claims database analysis

LONG-CHAIN FATTY ACID OXIDATION DISORDER GENOTYPES, CLINICAL SIGNS AND SYMPTOMS, AND NEWBORN SCREENING HISTORY FROM A GENE PANEL SPONSORED PROGRAM

Exploring genetic diversity, clinical signs, and newborn screening results in long-chain fatty acid oxidation disorders: Insights from a gene panel sponsored program

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