Publications by authors named "Ellen Crushell"

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Ellen Crushell

Brain· November 2025

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Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks.
Shona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, Bernd C Schwahn, Christopher Stockdale, Ellen Crushell

Arch Dis Child· July 2025

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Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, Cigdem Arikan, Sarah M Bedoyan, Ellen Crushell

Liver Int· July 2025

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Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series.
Eimear Loftus, Zaineb Elbishari, Patricia Fitzsimons, Caoimhe Howard, Yusra Sheikh, Ellen Crushell

Clin Case Rep· July 2025

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Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.
Shauna Quinn, Nicola Walsh, Ioana Streata, Athina Ververi, Samarth Kulshrestha, Ellen Crushell

Eur J Med Genet· February 2025

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MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, Ralf A Husain, Eva Forman, Ellen Crushell

J Inherit Metab Dis· September 2024

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Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Sarah C Grünert, Matthias Gautschi, Joshua Baker, Monica Boyer, Alberto Burlina, Ellen Crushell

Mol Genet Metab· June 2024

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Genetic landscape of pediatric acute liver failure of indeterminate origin.
Dominic Lenz, Lea D Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Ellen Crushell

Hepatology· May 2024

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Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Nicole Hammann, Dominic Lenz, Ivo Baric, Ellen Crushell, Carlo Dionisi Vici

Mol Genet Metab· March 2024

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Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.
Eoghan Dunlea, Ellen Crushell, Melanie Cotter, Nenad Blau, Carlos R Ferreira

Mol Genet Metab· December 2023

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Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
Dina Marek-Yagel, Emily Stenke, Ben Pode-Shakked, Cara Dunne, Ellen Crushell

Hum Genet· May 2023

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Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.
Lydia Healy, Meabh O'Shea, Jennifer McNulty, Graham King, Eilish Twomey, Ellen Crushell

JIMD Rep· July 2022

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Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.
Ritma Boruah, Ahmad Ardeshir Monavari, Tracey Conlon, Nuala Murphy, Andreea Stroiescu, Ellen Crushell

J Clin Med· March 2022

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Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review.
Niamh O' Brien, Nuala Quinn, Birgitta Joyce, Helen Bedford, Ellen Crushell

BMJ Paediatr Open· March 2022

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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Ellen Crushell

Orphanet J Rare Dis· February 2022

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NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ellen Crushell

J Clin Immunol· November 2021

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The risk of malnutrition in children with autism spectrum disorder.
Lydia Iris Healy, Eimear Forbes, Jane Rice, Jane M Leonard, Ellen Crushell

Arch Dis Child Educ Pract Ed· October 2021

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The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.
Caroline Hart, Jenny McNulty, Melanie Cotter, Fatima Al Jasmi, Ellen Crushell

JIMD Rep· September 2021

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Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Federica Conte, Eva Morava, Nurulamin Abu Bakar, Saskia B Wortmann, Anne Jonge Poerink, Ellen Crushell

Mol Genet Metab· June 2021

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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
Daniel O'Reilly, Ellen Crushell, Joanne Hughes, Stephanie Ryan, Yvonne Rogers

J Inherit Metab Dis· May 2021

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IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland.
Suja Somanadhan, Hannah Bristow, Ellen Crushell, Gregory Pastores, Emma Nicholson

Ther Adv Rare Dis· May 2021

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Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.
Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney

JIMD Rep· March 2021

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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Dominic Lenz, Desirée E C Smith, Ellen Crushell, Ralf A Husain, Gajja S Salomons

Genet Med· November 2020

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Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
Tracey A Conlon, Patricia E Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy, Ellen Crushell

JIMD Rep· September 2020

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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Ellen Crushell

Genet Med· March 2020

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