L. Abulhoul

发表

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Swallow prognosis and follow up protocol in infantile Pompe disease

M. Cleary, M. Ryan, J. Davison, 2016 .

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

A. Broomfield, A. Chakrapani, C. Beesley, 2016, Journal of Inherited Metabolic Disease.

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

S. Parepalli, A. Sridhar, L. Abulhoul, 2012, BMJ Case Reports.

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

Michael R. Green, N. Perera, L. Abulhoul, 2005, The Journal of infection.

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

S. Ferdinandusse, H. Waterham, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

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

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

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

T. Jacques, W. Yue, S. Rahman, 2016, Brain : a journal of neurology.

Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.

W. Pitt, A. Broomfield, E. Jameson, 2014, JIMD reports.

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

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

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

S. Rahman, M. Sweeney, P. Clayton, 2014, Journal of Inherited Metabolic Disease.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

R. Lachmann, A. Broomfield, E. Jameson, 2017, Journal of Inherited Metabolic Disease.

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.

Kevin Mills, Neil J Sebire, Paul Gissen, 2015, Analytical chemistry.

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

E. Glamuzina, A. Vellodi, E. Fettes, 2011, Journal of Inherited Metabolic Disease.

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

E. Glamuzina, A. Vellodi, E. Fettes, 2011, Journal of Inherited Metabolic Disease.