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Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

BMC pediatrics, 2023-12, Vol.23 (1), p.644-644, Article 644

2023

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P446: A novel SLC9A6 variant identified in an autistic boy with epilepsy: Christianson syndrome

Genetics in Medicine Open, 2024, Vol.2, p.101340, Article 101340

2024

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P186: Cantu syndrome: Expanding the phenotype of this rare autosomal dominant condition

Genetics in Medicine Open, 2023, Vol.1 (1), p.100215, Article 100215

2023

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A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease

Frontiers in immunology, 2020-09, Vol.11, p.1929

2020

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Brugada syndrome & AKAP9: Reconciling clinical findings with diagnostic uncertainty

Journal of electrocardiology, 2019-11, Vol.57, p.119-121

2019

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Infantile Tay-Sachs disease: The need for improved prenatal screening

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107132, Article 107132

2023

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Clinical status update for prenatally diagnosed CRIM negative IOPD Patient

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107869, Article 107869

2024

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Giving Voice to Woman’s (a)Sexuality: Cinema of Kalpana Lajmi

Journal of exclusion studies, 2020, Vol.10 (2), p.190-203

Gupta, Punita

2020

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Pharmacological treatment of pediatric Gaucher disease

Expert review of clinical pharmacology, 2018-12, Vol.11 (12), p.1183-1194

2018

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Infantile Tay-Sachs disease: a case report

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S60-S60

2017

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Homozygous TBCK mutation: A novel type of lysosomal disorder

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S69-S69

2020

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Engaging Children in Research: Exploring Children’s Geographies

Journal of exclusion studies, 2022, Vol.12 (1), p.51-59

2022

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Duodenal Obstruction Associated With 3q29 Microdeletion Syndrome in a 10-Year-Old Child: 2371

The American journal of gastroenterology, 2015-10, Vol.110, p.S985

2015

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Providing the conduit for treatment: The impact of vascular access and vein preservation in a 5-year-old child with prenatally diagnosed CRIM-negative Infantile Pompe disease

The journal of vascular access, 2021-03, p.1129729821999486-1129729821999486

2021

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Positive newborn screening results for late onset conditions: The clinician’s dilemma

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S56-S57

2018

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Detecting a variant in the GLA gene in multiple family members as an incidental finding

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S66-S66

2019

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THE CURSE WITHOUT A CAUSE: A CASE OF ACQUIRED AUTONOMIC DYSFUNCTION

Journal of the American College of Cardiology, 2019-03, Vol.73 (9), p.2322-2322

2019

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The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Molecular genetics and metabolism, 2022-05, Vol.136 (1), p.4-21

2022

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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

Genetics in medicine, 2021-05, Vol.23 (5), p.845-855

2021

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Johanson-Blizzard Syndrome: Report of One Case: 2459

The American journal of gastroenterology, 2018-10, Vol.113 (Supplement), p.S1367-S1367

2018

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2518 Transitory Hemophagocytic Lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) in a Child With Very Early Onset (VEO) of Ulcerative Colitis (UC) Complicated With Primary Sclerosing Cholangitis (PSC)

The American journal of gastroenterology, 2019-10, Vol.114 (1), p.S1383-S1383

2019

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Transforming the clinical outcomes in CRIM-negative infantile Pompe disease identified via newborn screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S33-S33

2021

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Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S26-S27

2021

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BRUGADA SYNDROME: TAILORING GENETIC TESTING FOR CLINICAL PHENOTYPE

Journal of the American College of Cardiology, 2019-03, Vol.73 (9), p.2657-2657

2019

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Spotlight on taliglucerase alfa in the treatment of pediatrie patients with type I Gaucher disease

Pediatric health, medicine and therapeutics, 2017-01, Vol.8, p.73

2017

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Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

P446: A novel SLC9A6 variant identified in an autistic boy with epilepsy: Christianson syndrome

P186: Cantu syndrome: Expanding the phenotype of this rare autosomal dominant condition

A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease

Brugada syndrome & AKAP9: Reconciling clinical findings with diagnostic uncertainty

Infantile Tay-Sachs disease: The need for improved prenatal screening

Clinical status update for prenatally diagnosed CRIM negative IOPD Patient

Giving Voice to Woman’s (a)Sexuality: Cinema of Kalpana Lajmi

Pharmacological treatment of pediatric Gaucher disease

Infantile Tay-Sachs disease: a case report

Homozygous TBCK mutation: A novel type of lysosomal disorder

Engaging Children in Research: Exploring Children’s Geographies

Duodenal Obstruction Associated With 3q29 Microdeletion Syndrome in a 10-Year-Old Child: 2371

Providing the conduit for treatment: The impact of vascular access and vein preservation in a 5-year-old child with prenatally diagnosed CRIM-negative Infantile Pompe disease

Positive newborn screening results for late onset conditions: The clinician’s dilemma

Detecting a variant in the GLA gene in multiple family members as an incidental finding

THE CURSE WITHOUT A CAUSE: A CASE OF ACQUIRED AUTONOMIC DYSFUNCTION

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

Johanson-Blizzard Syndrome: Report of One Case: 2459

2518 Transitory Hemophagocytic Lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) in a Child With Very Early Onset (VEO) of Ulcerative Colitis (UC) Complicated With Primary Sclerosing Cholangitis (PSC)

Transforming the clinical outcomes in CRIM-negative infantile Pompe disease identified via newborn screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction

Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen

BRUGADA SYNDROME: TAILORING GENETIC TESTING FOR CLINICAL PHENOTYPE

Spotlight on taliglucerase alfa in the treatment of pediatrie patients with type I Gaucher disease

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