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Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

American journal of human genetics, 2015-10, Vol.97 (4), p.608-615

2015

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PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1505-1517

2015

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An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Molecular genetics and metabolism, 2011-01, Vol.102 (1), p.6-12

2011

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Late‐Onset Ornithine Transcarbamylase Deficiency Presenting With Asymptomatic Liver Dysfunction

Journal of pediatric gastroenterology and nutrition, 2014-06, Vol.58 (6), p.e55-e57-e55-e57

2014

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Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism

JIMD Reports, Volume 17, 2014-01, Vol.17, p.77-81

2014

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Epilepsy and Niemann Pick C disease

Journal of pediatric epilepsy, 2014-12, Vol.3 (4), p.229-234

2014

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Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.178-185

2015

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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. e67052

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

2013

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International guidelines for the management and treatment of Morquio A syndrome

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.11-25

2015

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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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UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

Analytica chimica acta, 2016-09, Vol.936, p.139-148

2016

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Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.235-242

2017

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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Genetics in medicine, 2016-05, Vol.18 (5), p.452-458

2016

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Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial

Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100988-100988, Article 100988

2023

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Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel

Canadian journal of neurological sciences, 2016-07, Vol.43 (4), p.472-485

2016

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Update on safety and efficacy results for phase I/II trial of hydroxypropyl betacyclodextrin (HPâCD) administered intravenously in patients with Niemann-Pick disease type C1

MOLECULAR GENETICS AND METABOLISM, 2021-02, Vol.132 (2), p.S90-S90

2021

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Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review

Molecular genetics and metabolism reports, 2022-09, Vol.32, p.100881, Article 100881

2022

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The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.171-176

2014

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Outcomes of Pediatric Liver Transplantation in Glycogen Storage Disease Type 1b-A Single-Center Experience

Pediatric transplantation, 2024-11, Vol.28 (7), p.e14839

2024

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Defining mitochondrial protein functions through deep multiomic profiling

Nature (London), 2022-06, Vol.606 (7913), p.382-388

2022

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Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I

Molecular genetics and metabolism, 2021-07, Vol.133 (3), p.289-296

2021

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A comparison of stem cell transplant versus enzyme replacement therapy in infants with MPS II

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S76-S76

2018

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Bone marrow transplantation treatment for a 4 year old asymptomatic patient with metachromatic leukodystrophy (MLD)

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S60-S60

2016

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Bone marrow transplantation treatment for a 4year old asymptomatic patient with metachromatic leukodystrophy (MLD)

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S60

2016

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Tachypnea of infancy as the first sign of Sanfilippo syndrome

Pediatrics (Evanston), 2014-09, Vol.134 (3), p.e884-e888

2014

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Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Late‐Onset Ornithine Transcarbamylase Deficiency Presenting With Asymptomatic Liver Dysfunction

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism

Epilepsy and Niemann Pick C disease

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

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

International guidelines for the management and treatment of Morquio A syndrome

Clinical Features of Lysosomal Acid Lipase Deficiency

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial

Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel

Update on safety and efficacy results for phase I/II trial of hydroxypropyl betacyclodextrin (HPâCD) administered intravenously in patients with Niemann-Pick disease type C1

Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Outcomes of Pediatric Liver Transplantation in Glycogen Storage Disease Type 1b-A Single-Center Experience

Defining mitochondrial protein functions through deep multiomic profiling

Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I

A comparison of stem cell transplant versus enzyme replacement therapy in infants with MPS II

Bone marrow transplantation treatment for a 4 year old asymptomatic patient with metachromatic leukodystrophy (MLD)

Bone marrow transplantation treatment for a 4year old asymptomatic patient with metachromatic leukodystrophy (MLD)

Tachypnea of infancy as the first sign of Sanfilippo syndrome

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