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Phenotype-autosomal recessive osteopetrosis

Bone (New York, N.Y.), 2022-12, Vol.165, p.116577-116577, Article 116577

2022

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Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series

Pediatric dermatology, 2024-03, Vol.41 (2), p.292-295

2024

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Parental request for familial carrier testing in early childhood: The genetic counseling perspective

Clinical genetics, 2024-03, Vol.105 (3), p.262-272

2024

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MED12‐related Hardikar syndrome: Two additional cases and novel phenotypic features

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2231-2236

2022

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Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review

Molecular genetics and metabolism, 2019-12, Vol.128 (4), p.431-443

2019

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Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

Genes, 2022-07, Vol.13 (8), p.1293

2022

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Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107669-107669, Article 107669

2023

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Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1239-1244

2022

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Biochemical signatures of disease severity in multiple sulfatase deficiency

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.374-386

2024

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Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening

Molecular genetics and metabolism, 2023-09, Vol.140 (1-2), p.107633-107633, Article 107633

2023

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Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1870-1874

2021

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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2781-2787

2020

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Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2138-2143

2019

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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2459-2468

2019

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Intravital microscopy: An innovative approach to track real‐time muscle integrity and pathology in Pompe disease

Clinical and translational discovery, 2024-08, Vol.4 (4), p.n/a

2024

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Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly

European journal of medical genetics, 2019-06, Vol.62 (6), p.103531-103531, Article 103531

2019

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Lyso-Gl3 levels in patients during transition from agalsidase beta to migalastat

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107343, Article 107343

2023

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Comparison of therapeutic potential of ERT to chaperone therapy in I270T related Fabry disease

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S123-S123

2022

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Variation in quantitative glycosaminoglycan analysis results from different clinical laboratories

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S110-S111

2022

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Dose matters: Need for higher dose of avalglucosidase alfa in late-onset Pompe disease patients with disease progression on standard dose

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108045, Article 108045

2024

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Frequent GAG monitoring to evaluate the efficacy of enzyme replacement therapy in MPS IVA

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107997, Article 107997

2024

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Developing biomarker trends to establish the efficacy of treatment, and to compare relative differences between different drugs

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107746, Article 107746

2024

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eP038 - Cobalamin J disease detected on newborn screening: novel variant and normal neurodevelopmental course

Molecular genetics and metabolism, 2021-04, Vol.132, p.S26-S27

2021

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Cobalamin J disease detected on newborn screening: novel variant and normal neurodevelopmental course

Molecular genetics and metabolism, 2021-04, Vol.132, p.S26-S27

2021

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Resolving variants of unknown significance and pseudodeficiency alleles

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107272, Article 107272

2023

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Phenotype-autosomal recessive osteopetrosis

Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series

Parental request for familial carrier testing in early childhood: The genetic counseling perspective

MED12‐related Hardikar syndrome: Two additional cases and novel phenotypic features

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function

Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings

Biochemical signatures of disease severity in multiple sulfatase deficiency

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

Intravital microscopy: An innovative approach to track real‐time muscle integrity and pathology in Pompe disease

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly

Lyso-Gl3 levels in patients during transition from agalsidase beta to migalastat

Comparison of therapeutic potential of ERT to chaperone therapy in I270T related Fabry disease

Variation in quantitative glycosaminoglycan analysis results from different clinical laboratories

Dose matters: Need for higher dose of avalglucosidase alfa in late-onset Pompe disease patients with disease progression on standard dose

Frequent GAG monitoring to evaluate the efficacy of enzyme replacement therapy in MPS IVA

Developing biomarker trends to establish the efficacy of treatment, and to compare relative differences between different drugs

eP038 - Cobalamin J disease detected on newborn screening: novel variant and normal neurodevelopmental course

Cobalamin J disease detected on newborn screening: novel variant and normal neurodevelopmental course

Resolving variants of unknown significance and pseudodeficiency alleles

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