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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

PloS one, 2013-06, Vol.8 (6), p.e67052

2013

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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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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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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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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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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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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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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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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Orphanet journal of rare diseases, 2012-04, Vol.7 (1), p.22-22, Article 22

2012

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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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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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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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An 8-year-old girl with a history of stiff and painful joints

Pediatric annals, 2014-08, Vol.43 (8), p.307

2014

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Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations

Molecular genetics and metabolism, 2013-01, Vol.108 (1), p.40-50

2013

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A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

Children (Basel), 2021-09, Vol.8 (9), p.819

2021

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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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An uncommon cause of early infantile liver disease and raised chitotriosidase

JIMD reports, 2020-07, Vol.54 (1), p.22-24

2020

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Case 2: A teenager with nausea, vomiting and dysarthria

Paediatrics & child health, 2013-12, Vol.18 (10), p.515-517

2013

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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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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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Defining mitochondrial protein functions through deep multiomic profiling

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

2022

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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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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

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

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

Late‐Onset Ornithine Transcarbamylase Deficiency Presenting With Asymptomatic Liver Dysfunction

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

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

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

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

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

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)

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

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

An 8-year-old girl with a history of stiff and painful joints

Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

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

An uncommon cause of early infantile liver disease and raised chitotriosidase

Case 2: A teenager with nausea, vomiting and dysarthria

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

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

Defining mitochondrial protein functions through deep multiomic profiling

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)

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