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List of works by Lorne Clarke

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

scientific article

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease

scientific article published in June 1993

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

scientific article published on 09 June 2006

A homology model for human alpha-l-iduronidase: insights into human disease

scientific article published on 10 February 2005

Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.

scientific article published on 14 May 2012

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

scientific article

Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome

scientific article published on 02 December 2005

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

scientific article published in November 2008

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

scientific article published on January 2010

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

scientific article published on 8 May 2015

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

scientific article published in May 2004

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

scientific article published on 21 December 2009

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

scientific article

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I.

scientific article published on 7 October 2014

Family 39 alpha-l-iduronidases and beta-D-xylosidases react through similar glycosyl-enzyme intermediates: identification of the human iduronidase nucleophile

scientific article published in July 2003

Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease

scientific article published on 31 October 2006

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

scientific article published on 02 July 2019

Heparin cofactor II–thrombin complex in MPS I: A biomarker of MPS disease

scientific article published on 23 February 2006

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

scientific article published on 03 June 2008

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

scientific article published in October 1996

Idursulfase for the treatment of mucopolysaccharidosis II

Imaging of enzyme replacement therapy using PET

scientific article

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome

scientific article published on 29 December 2015

Intracranial calcification after cord blood neonatal transplantation for krabbe disease

scientific article published in August 2009

Is it Fabry disease?

scientific article published on 19 May 2016

Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: comment on pathogenesis of a novel complication

scientific article published on 13 June 2012

Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity

article

Long term survival of an infant with sirenomelia.

scientific article

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

scientific article published in January 2009

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients

scientific article published on 06 July 2011

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

scientific article published on 03 April 2019

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

scientific article published on January 1995

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

scientific article published on 04 January 2014

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

scientific article

Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly

scientific article

Murine alpha-L-iduronidase: cDNA isolation and expression.

scientific article published on November 1994

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations

scientific article published on 01 January 1994

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

scientific article published on 19 November 2020

Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator ⬇️

scientific article published on December 1, 2011

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants ⬇️

scientific article published on November 7, 2011

Production of α-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease

scientific article published in Nature Communications

Pseudo-lysosomal storage disease caused by EMLA cream

scientific article

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges

scientific article published on 07 June 2019

Recombinant proteins for genetic disease.

scientific article

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

scientific article

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

scientific article

Spasms in children with definite and probable mitochondrial disease.

scientific article published in February 2004

Stability of frozen muscle used for mitochondrial enzyme assays

scientific article published on 01 February 1994

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Sudden, unexpected, natural death in childhood

scientific article published in January 1990

Synthesis of enzymatically active human alpha-L-iduronidase in Arabidopsis cgl (complex glycan-deficient) seeds

scientific article published on 01 March 2006

Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish

scientific article published on 01 September 1994

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

scientific article published on 27 August 2014

The mucopolysaccharidoses: a success of molecular medicine.

scientific article published on 18 January 2008

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus ⬇️

scientific article published on October 29, 2011

Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease

scientific article published on 30 April 2013

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene

scientific article published on 01 August 1993

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

scientific article

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