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Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.357-368

2017

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

The New England journal of medicine, 2021-11, Vol.385 (20), p.1868-1880

2021

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Whole-genome sequencing of patients with rare diseases in a national health system

Nature (London), 2020-07, Vol.583 (7814), p.96-102

2020

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Germline selection shapes human mitochondrial DNA diversity

Science (American Association for the Advancement of Science), 2019-05, Vol.364 (6442)

2019

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Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.445-457

2015

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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Brain (London, England : 1878), 2016-11, Vol.139 (11), p.2844-2854

2016

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Alterations in gait pattern in Hunter disease patients undergoing enzyme replacement therapy as assessed by the GaitRite system: A six year follow up

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S19-S19

2015

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Early predictors of neurological involvement scoring system in mucopolysaccharidosis type 2: Does it help?

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S32-S33

2015

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Treatment decision making for parents of children with lysosomal disorders in the era of rapidly advancing medical options

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S106-S106

2015

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The impact of bone marrow transplant treatment for mucopolysaccharidosis type IH on family functioning: Social, emotional and financial factors

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S24-S24

2015

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Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI

Analytical chemistry (Washington), 2015-12, Vol.87 (24), p.12238-12244

2015

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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Orphanet journal of rare diseases, 2013-12, Vol.8 (1), p.188-188, Article 188

2013

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Swallow prognosis and follow up protocol in infantile Pompe disease

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S111-S111

2016

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Do children with MPS IIIA present earlier in life than those with MPS IIIB?

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S27-S28

2014

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Whole-genome sequencing of patients with rare diseases in a national health system

Nature (London), 2020-07, Vol.583 (7814), p.96-102

2020

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Whole-genome sequencing of patients with rare diseases in a national health system

Nature (London), 2020-07, Vol.583 (7814), p.96-102

2020

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Hematopoietic cell transplant in mucopolysaccharidosis type I: Single center review of age of diagnosis and time to transplant

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S108-S108

2015

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Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

Circulation. Genomic and precision medicine, 2021-02, Vol.14 (1), p.e003155-e003155

2021

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Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.749-754

2011

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Proteomic analysis of urine reveals potential markers for CLN2 Batten disease

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S57-S57

2016

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Urine biomarker discovery using label free proteomics reveals novel markers for the monitoring of treatment for mucopolysaccharide disorders

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S54-S55

2015

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The UK experience of enzyme replacement therapy in patients with infantile onset Pompe disease

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S24-S25

2015

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Group A streptococcal meningitis: case report and review of the literature

The Journal of infection, 2005-08, Vol.51 (2), p.E1-E4

2005

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Tuberculous radiculomyelitis presenting as urinary retention in a child with Down’s syndrome

BMJ case reports, 2012-04, Vol.2012 (apr02 1), p.bcr1020115005-bcr1020115005

2012

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Tuberculous radiculomyelitis presenting as urinary retention in a child with Down’s syndrome

BMJ Case Reports, 2012, Vol.2012

2012

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Expanding the phenotype in argininosuccinic aciduria: need for new therapies

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

Whole-genome sequencing of patients with rare diseases in a national health system

Germline selection shapes human mitochondrial DNA diversity

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Alterations in gait pattern in Hunter disease patients undergoing enzyme replacement therapy as assessed by the GaitRite system: A six year follow up

Early predictors of neurological involvement scoring system in mucopolysaccharidosis type 2: Does it help?

Treatment decision making for parents of children with lysosomal disorders in the era of rapidly advancing medical options

The impact of bone marrow transplant treatment for mucopolysaccharidosis type IH on family functioning: Social, emotional and financial factors

Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Swallow prognosis and follow up protocol in infantile Pompe disease

Do children with MPS IIIA present earlier in life than those with MPS IIIB?

Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing of patients with rare diseases in a national health system

Hematopoietic cell transplant in mucopolysaccharidosis type I: Single center review of age of diagnosis and time to transplant

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points

Proteomic analysis of urine reveals potential markers for CLN2 Batten disease

Urine biomarker discovery using label free proteomics reveals novel markers for the monitoring of treatment for mucopolysaccharide disorders

The UK experience of enzyme replacement therapy in patients with infantile onset Pompe disease

Group A streptococcal meningitis: case report and review of the literature

Tuberculous radiculomyelitis presenting as urinary retention in a child with Down’s syndrome

Tuberculous radiculomyelitis presenting as urinary retention in a child with Down’s syndrome

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