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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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Mitochondrial disorders and general anaesthesia: a case series and review

British journal of anaesthesia : BJA, 2008-04, Vol.100 (4), p.436-441

2008

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Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.98-105

2020

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The utility of dried blood spot monitoring of branched-chain amino acids for maple syrup urine disease: A retrospective chart review study

Clinica chimica acta, 2020-01, Vol.500, p.195-201

2020

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How to use a controlled fast to investigate hypoglycaemia

Archives of disease in childhood. Education and practice edition, 2017-02, Vol.102 (1), p.28

2017

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Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.23-28

2007

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Auxiliary Liver Transplantation for Propionic Acidemia: A 10‐Year Follow‐Up

American journal of transplantation, 2007-09, Vol.7 (9), p.2200-2203

2007

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Dyslipidemia and sustained elevations in transaminases from early childhood are common in lysosomal acid lipase deficiency

Atherosclerosis, 2014-08, Vol.235 (2), p.e55-e56

2014

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Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

Developmental medicine and child neurology, 2006-09, Vol.48 (9), p.756-760

2006

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Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype

Human genetics, 2009-04, Vol.125 (3), p.319-326

2009

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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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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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Outcomes of patients treated through the Canadian Fabry disease initiative

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.499-506

2014

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.65-65, Article 65

2015

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The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.41-48

2013

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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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Permeability profiles of M-alkoxysubstituted pyrrolidinoethylesters of phenylcarbamic acid across Caco-2 monolayers and human skin

Pharmaceutical research, 2002-02, Vol.19 (2), p.162-168

2002

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Spectrum of Pompe disease in childhood – The Toronto experience

BMC musculoskeletal disorders, 2013-05, Vol.14 (S2), p.P3-P3, Article P3

2013

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Effects of various absorption enhancers on transport of clodronate through Caco-2 cells

International journal of pharmaceutics, 2003-08, Vol.261 (1), p.129-136

2003

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Pyruvate dehydrogenase phosphatase 1

Human genetics, 2009-04, Vol.125 (3), p.319

2009

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O14 – 1917 Hypomyelination with brain stem and spinal cord involvement and severe leg spasticity (HBSL): mutations in DARS are responsible

European journal of paediatric neurology, 2013-09, Vol.17, p.S5-S5

2013

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Hematopoietic Stem Cell Transplantation for Inherited Metabolic Diseases: An Overview of Long-Term Outcomes in A Single Pediatric Centre

Biology of blood and marrow transplantation, 2009-02, Vol.15 (2), p.103-103

2009

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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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Drug Adsorption in Human Skin: A Streaming Potential Study

Journal of pharmaceutical sciences, 2003-12, Vol.92 (12), p.2366-2372

2003

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Safe resection for diverticular disease of the colon

Diseases of the colon & rectum, 1989-01, Vol.32 (1), p.30-32

1989

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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

Mitochondrial disorders and general anaesthesia: a case series and review

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England

The utility of dried blood spot monitoring of branched-chain amino acids for maple syrup urine disease: A retrospective chart review study

How to use a controlled fast to investigate hypoglycaemia

Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency

Auxiliary Liver Transplantation for Propionic Acidemia: A 10‐Year Follow‐Up

Dyslipidemia and sustained elevations in transaminases from early childhood are common in lysosomal acid lipase deficiency

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype

Late‐Onset Ornithine Transcarbamylase Deficiency Presenting With Asymptomatic Liver Dysfunction

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

Outcomes of patients treated through the Canadian Fabry disease initiative

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

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

Permeability profiles of M-alkoxysubstituted pyrrolidinoethylesters of phenylcarbamic acid across Caco-2 monolayers and human skin

Spectrum of Pompe disease in childhood – The Toronto experience

Effects of various absorption enhancers on transport of clodronate through Caco-2 cells

Pyruvate dehydrogenase phosphatase 1

O14 – 1917 Hypomyelination with brain stem and spinal cord involvement and severe leg spasticity (HBSL): mutations in DARS are responsible

Hematopoietic Stem Cell Transplantation for Inherited Metabolic Diseases: An Overview of Long-Term Outcomes in A Single Pediatric Centre

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

Drug Adsorption in Human Skin: A Streaming Potential Study

Safe resection for diverticular disease of the colon

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