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Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

BMC neurology, 2019-02, Vol.19 (1), p.20-20, Article 20

2019

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Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

Clinical genetics, 2017-09, Vol.92 (3), p.281-289

2017

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Update on transcobalamin deficiency: clinical presentation, treatment and outcome

Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.461-473

2014

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Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.756-759

2012

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Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults

Canadian journal of neurological sciences, 2013-01, Vol.40 (1), p.3-9

2013

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Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.325-335

2007

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A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population

Journal of medical genetics, 2001-09, Vol.38 (9), p.615-616

2001

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MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation

Canadian journal of neurological sciences, 2014-03, Vol.41 (2), p.210-219

2014

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Transcobalamin (TC) deficiency and newborn screening

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.727-727

2012

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The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

Molecular genetics and metabolism reports, 2016-03, Vol.6 (C), p.64-69

2016

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Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.41-42

2016

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Isolated sulfite oxidase deficiency

Neuropediatrics, 1996-12, Vol.27 (6), p.299-304

1996

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Transcobalamin (TC) deficiency—Potential cause of bone marrow failure in childhood

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.287-292

2008

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Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

JIMD Reports, Volume 18, 2015, Vol.18, p.69-77

2015

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Consequences of Aging on Mitochondrial Respiratory Chain Enzymes in Cultured Human Fibroblasts Treated with Ascorbate

Gerontology (Basel), 1998, Vol.44 (2), p.78-84

1998

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Nerve biopsy findings in Niemann-Pick type II (NPC)

Acta neuropathologica, 1994-02, Vol.87 (2), p.149-154

1994

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Medium‐chain acyl‐CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome

Journal of inherited metabolic disease, 1995-05, Vol.18 (3), p.365-366

1995

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Purification and structure of human liver aspartylglucosaminidase

Biochemical journal, 1992-12, Vol.288 (3), p.1005-1010

1992

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In vitro cytotoxicity and antibiotic activity of polymyxin B nonapeptide

Antimicrobial Agents and Chemotherapy, 1986-08, Vol.30 (2), p.340-341

1986

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Quantitative and qualitative comparison of gall bladder mucus glycoprotein from patients with and without gall stones

Gut, 1986-04, Vol.27 (4), p.374-381

1986

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Aspartylglucosaminuria in a Canadian family

Clinical and investigative medicine, 1998-06, Vol.21 (3), p.114-123

1998

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CELLULAR BIOENERGETICS AND CEREBRAL DYSMORPHOGENESIS: LESSONS FROM AMISH MICROCEPHALY

Neuropediatrics, 2006, Vol.37 (S 1)

2006

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Rat liver lysosome membranes are enriched in alpha-tocopherol

Biochemistry and cell biology, 1992-06, Vol.70 (6), p.486-488

1992

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Occurrence of dolichol in human tissues

Lipids, 1978-04, Vol.13 (4), p.291-293

1978

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Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency

Journal of paediatrics and child health, 1993-06, Vol.29 (3), p.237-238

1993

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Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population

MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation

Transcobalamin (TC) deficiency and newborn screening

The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

Isolated sulfite oxidase deficiency

Transcobalamin (TC) deficiency—Potential cause of bone marrow failure in childhood

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

Consequences of Aging on Mitochondrial Respiratory Chain Enzymes in Cultured Human Fibroblasts Treated with Ascorbate

Nerve biopsy findings in Niemann-Pick type II (NPC)

Medium‐chain acyl‐CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome

Purification and structure of human liver aspartylglucosaminidase

In vitro cytotoxicity and antibiotic activity of polymyxin B nonapeptide

Quantitative and qualitative comparison of gall bladder mucus glycoprotein from patients with and without gall stones

Aspartylglucosaminuria in a Canadian family

CELLULAR BIOENERGETICS AND CEREBRAL DYSMORPHOGENESIS: LESSONS FROM AMISH MICROCEPHALY

Rat liver lysosome membranes are enriched in alpha-tocopherol

Occurrence of dolichol in human tissues

Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency

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