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Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

Molecular genetics and metabolism reports, 2018-12, Vol.17, p.69-72

2018

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The emerging phenotype of long-term survivors with infantile Pompe disease

Genetics in medicine, 2012-09, Vol.14 (9), p.800-810

2012

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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.189-197

2017

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Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.92-96

2018

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Low anal sphincter tone in infantile-onset Pompe Disease: An emerging clinical issue in enzyme replacement therapy patients requiring special attention

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.142-144

2013

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Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series

Pediatric anesthesia, 2007-08, Vol.17 (8), p.738-748

2007

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Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening

Journal of neuromuscular diseases, 2015, Vol.2 (s1), p.S7-S7

2015

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Corticobasal syndrome in a man with type 1 Gaucher disease: Expansion of the understanding of the neurological spectrum

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S55-S55

2019

Volltextzugriff (PDF)

The emerging natural history of cross-reactive immunologic material (CRIM)-negative infantile Pompe disease patients treated with recombinant human GAA

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S97

2014

Volltextzugriff (PDF)

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT. e67052

PloS one, 2013-06, Vol.8 (6)

2013

Volltextzugriff (PDF)

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

Molecular genetics and metabolism reports, 2018, Vol.17, p.69-72

2018

Volltextzugriff (PDF)

Glucosylsphingosine (Lyso-Gb 1 ): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

International journal of molecular sciences, 2022-12, Vol.23 (23), p.14938

2022

Volltextzugriff (PDF)

Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

Pediatric pulmonology, 2020-03, Vol.55 (3), p.674-681

2020

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Polysomnographic findings in infantile Pompe disease

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3196-3200

2013

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Longitudinal polysomnographic findings in infantile Pompe disease

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.858-861

2015

Volltextzugriff (PDF)

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

International journal of molecular sciences, 2022, Vol.23 (23)

2022

Volltextzugriff (PDF)

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Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

The emerging phenotype of long-term survivors with infantile Pompe disease

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

Low anal sphincter tone in infantile-onset Pompe Disease: An emerging clinical issue in enzyme replacement therapy patients requiring special attention

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series

Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening

Corticobasal syndrome in a man with type 1 Gaucher disease: Expansion of the understanding of the neurological spectrum

The emerging natural history of cross-reactive immunologic material (CRIM)-negative infantile Pompe disease patients treated with recombinant human GAA

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT. e67052

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

Glucosylsphingosine (Lyso-Gb 1 ): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

Polysomnographic findings in infantile Pompe disease

Longitudinal polysomnographic findings in infantile Pompe disease

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

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