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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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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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Delivery and stability of LHRH and Nafarelin in human skin: the effect of constant/pulsed iontophoresis

European journal of pharmaceutical sciences, 2004-02, Vol.21 (2-3), p.371-377

2004

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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

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

Delivery and stability of LHRH and Nafarelin in human skin: the effect of constant/pulsed iontophoresis

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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