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Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.1-266, Article 266

2020

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Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Genetics in medicine, 2016-03, Vol.18 (3), p.239-248

2016

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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Nature genetics, 2017-04, Vol.49 (4), p.613-617

2017

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Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

Molecular genetics and metabolism, 2015-04, Vol.114 (4), p.557-563

2015

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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

Molecular genetics and metabolism, 2009-03, Vol.96 (3), p.85-90

2009

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Amino acid disorders

Annals of translational medicine, 2018-12, Vol.6 (24), p.471-471

2018

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Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database

Molecular genetics and metabolism reports, 2022-09, Vol.32, p.100884-100884, Article 100884

2022

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Metabolic providers in crisis – Burning out on the road to burnout?

Molecular genetics and metabolism, 2021-12, Vol.134 (4), p.285-286

2021

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Inborn errors of metabolism in the 21st century: past to present

Annals of translational medicine, 2018-12, Vol.6 (24), p.467-467

Arnold, Georgianne L.

2018

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Late Onset Optic Neuropathy in Methylmalonic and Propionic Acidemia

American journal of ophthalmology, 2009-05, Vol.147 (5), p.929-933

2009

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Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

Molecular genetics and metabolism, 2010-03, Vol.99 (3), p.263-268

2010

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Successful orthotopic heart transplantation in CPTII deficiency

Molecular genetics and metabolism, 2021-06, Vol.133 (2), p.182-184

2021

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Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.768-778

2022

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nature genetics, 2008-12, Vol.40 (12), p.1466-1471

2008

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Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.272-281

2016

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Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment

Molecular genetics and metabolism, 2019-09, Vol.128 (1-2), p.1-9

2019

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Parents' experiences of expanded newborn screening evaluations

Pediatrics (Evanston), 2011-07, Vol.128 (1), p.53-61

2011

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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Genetics in medicine, 2009-03, Vol.11 (3), p.210-219

2009

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Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.813-822

2020

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Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

Cancer genetics, 2020-06, Vol.244, p.36-39

2020

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Development of clinical guidelines for inborn errors of metabolism: Commentary

Molecular genetics and metabolism, 2013-04, Vol.108 (4), p.203-205

2013

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Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

Molecular genetics and metabolism, 2016-05, Vol.118 (1), p.15-20

2016

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Internet use by parents of infants with positive newborn screens

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.879-884

2012

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Thoroughly modern medicine

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.1-2

2011

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Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

Amino acid disorders

Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database

Metabolic providers in crisis – Burning out on the road to burnout?

Newborn Screening for Krabbe Disease: the New York State Model

Inborn errors of metabolism in the 21st century: past to present

Late Onset Optic Neuropathy in Methylmalonic and Propionic Acidemia

Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

Successful orthotopic heart transplantation in CPTII deficiency

Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment

Parents' experiences of expanded newborn screening evaluations

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

Development of clinical guidelines for inborn errors of metabolism: Commentary

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

Internet use by parents of infants with positive newborn screens

Thoroughly modern medicine

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