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Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

The Journal of pediatrics, 2017-11, Vol.190, p.130-135

2017

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Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

The Lancet (British edition), 2014-07, Vol.384 (9937), p.37-44

2014

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Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.456-14, Article 456

2021

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Mutation in BAG3 causes severe dominant childhood muscular dystrophy

Annals of neurology, 2009-01, Vol.65 (1), p.83-89

2009

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Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Orphanet journal of rare diseases, 2018-02, Vol.13 (1), p.30-30, Article 30

2018

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Clinical Features of Lysosomal Acid Lipase Deficiency

Journal of pediatric gastroenterology and nutrition, 2015-12, Vol.61 (6), p.619-625

2015

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The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Pediatrics (Evanston), 2017-07, Vol.140 (Suppl 1), p.S14-S23

2017

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Survey of health status and complications among propionic acidemia patients

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1641-1646

2012

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Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study

Journal of inherited metabolic disease, 2023-09, Vol.46 (5), p.943-955

2023

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Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Acta Paediatrica, 2013-05, Vol.102 (5), p.462-470

2013

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Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-357, Article 357

2023

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Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States

Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.182-187

2021

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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

The Journal of pediatrics, 2017-03, Vol.182, p.363-370

2017

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Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.108-108, Article 108

2018

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Response to Drs. Strong and Ficicioglu

Journal of pediatric gastroenterology and nutrition, 2023-06, Vol.76 (6), p.e89-e89

Burton, Barbara K.

2023

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Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.82-82, Article 82

2017

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Newborn screening for Pompe disease: An update, 2011

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-02, Vol.160C (1), p.8-12

Burton, Barbara K.

2012

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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

International journal of neonatal screening, 2020-09, Vol.6 (3), p.73-73

2020

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Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience

International journal of neonatal screening, 2022-01, Vol.8 (1), p.6

2022

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Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy

Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100981, Article 100981

2023

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Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100918-100918, Article 100918

2022

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Inborn errors of metabolism in infancy: a guide to diagnosis

Pediatrics (Evanston), 1998-12, Vol.102 (6), p.E69-e69

Burton, B K

1998

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Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria

Clinical and translational science, 2021-09, Vol.14 (5), p.1894-1905

2021

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Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

International journal of neonatal screening, 2022-01, Vol.8 (1), p.9

2022

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Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Clinical Features of Lysosomal Acid Lipase Deficiency

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Survey of health status and complications among propionic acidemia patients

Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

Response to Drs. Strong and Ficicioglu

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Newborn screening for Pompe disease: An update, 2011

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience

Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy

Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

Inborn errors of metabolism in infancy: a guide to diagnosis

Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

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