Publications by authors named "Mark Sharrard"

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cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.
Bernd C Schwahn, Claire Hart, Louisa Ann Smith, Anthony Hart, Lynette Fairbanks, Mark Sharrard

Mol Genet Metab· December 2024

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Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Rachel S Carling, Katy Hedgethorne, Anupam Chakrapani, Patricia L Hall, Nick Flynn, Mark Sharrard

Int J Neonatal Screen· March 2024

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, Mark Sharrard

Genet Med· June 2023

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, Mark Sharrard

Genet Med· June 2023

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Post-Treatment Movement Disorder in a Child with Late-onset Cobalamin Deficiency.
Ala Fadilah, Peter S Baxter, Ptolemaios G Sarrigiannis, Soma Sengupta, Mark J Sharrard

Mov Disord Clin Pract· February 2022

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Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Alex Pinto, Catherine Ashmore, Spyros Batzios, Anne Daly, Charlotte Dawson, Mark Sharrard

Nutrients· October 2020

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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Nandaki Keshavan, Jose Abdenur, Glenn Anderson, Zahra Assouline, Giulia Barcia, Mark Sharrard

Genet Med· January 2020

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Monocarboxylate transporter 1 deficiency and ketone utilization.
Peter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, Jos P N Ruiter, Marjolein Turkenburg, Mark J Sharrard

N Engl J Med· November 2014

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Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy.
Nigel J Manning, Elizabeth K Allen, Richard J Kirk, Mark J Sharrard, Edwin J Smith

JIMD Rep· February 2013

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Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Ruchi Sharma, Mark J Sharrard, Daniel J Connolly, Santosh R Mordekar

Dev Med Child Neurol· May 2012

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The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: what is the most appropriate imaging strategy?
Paul D Griffiths, Ruth Batty, Daniel Warren, Anthony Hart, Mark Sharrard

Eur Radiol· September 2011

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Clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration.
Mark Sharrard

Dev Med Child Neurol· May 2010

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Glycogen storage disease type IX: High variability in clinical phenotype.
Nicholas James Beauchamp, Ann Dalton, Uma Ramaswami, Harri Niinikoski, Karine Mention, Mark Sharrard

Mol Genet Metab· November 2007

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Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
Claire E Hart, Valerie Race, Younes Achouri, Elsa Wiame, Mark Sharrard

Am J Hum Genet· May 2007

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Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy.
Daniel J Warren, Daniel J A Connolly, Iain D Wilkinson, Mark J Sharrard, Paul D Griffiths

Dev Med Child Neurol· February 2007

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Acute bilateral striatal necrosis with rotavirus gastroenteritis and inborn metabolic predisposition.
Santosh Mordekar, Tim Jaspan, Mark Sharrard, Richard Morton, William P Whitehouse

Dev Med Child Neurol· June 2005

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Treating rare inborn errors of metabolism.
Rodney J Pollitt, Mark J Sharrard

Lancet· January 2005

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Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome.
Marie-Cécile Nassogne, Mark Sharrard, Lucie Hertz-Pannier, Didier Armengaud, Guy Touati

Childs Nerv Syst· December 2002

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