E. Crushell

发表

Play-wrestlers and their injuries.

D. McCormack, T. Mccarthy, E. Crushell, 2005, Irish medical journal.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in the Irish Population

N. Murphy, A. Irvine, I. Ulmanen, 2006, Journal of pediatric endocrinology & metabolism : JPEM.

Newborn screening for homocystinurias: Recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of inherited metabolic disease.

Newborn screening for homocystinurias: recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of Inherited Metabolic Disease.

Clinical , biochemical , and genetic features of four patients with short-chain enoyl-CoA hydratase ( ECHS 1 ) deficiency

Reilly, Robert W. Taylor, S. Ferdinandusse, 2018 .

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Robert W. Taylor, S. Ferdinandusse, H. Waterham, 2018, American journal of medical genetics. Part A.

Consensus clinical management guidelines for Niemann-Pick disease type C

M. Patterson, M. Walterfang, D. Ory, 2018, Orphanet Journal of Rare Diseases.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase‐I deficiency

J. Vissing, C. Thiel, N. Voermans, 2018, Translational research : the journal of laboratory and clinical medicine.

Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.

Douglas R Martin, J. Callahan, E. Crushell, 2012, Molecular genetics and metabolism.

Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study

P. Rudd, I. Knerr, P. Doran, 2015, Pediatric Research.

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

I. Knerr, P. Doran, E. Crushell, 2013, Journal of Inherited Metabolic Disease.

Friedreich Ataxia in Classical Galactosaemia.

I. Knerr, S. Lynch, E. Crushell, 2015, JIMD reports.

Negative screening tests in classical galactosaemia caused by S135L homozygosity

J. Blatny, E. Crushell, E. Treacy, 2009, Journal of Inherited Metabolic Disease.

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

R. Regan, J. Conroy, J. Casey, 2012, Molecular genetics and metabolism.

Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients

I. Knerr, E. Crushell, E. Treacy, 2022, JIMD reports.

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

J. H. van der Lee, K. White, R. Sakkers, 2013, Orphanet Journal of Rare Diseases.

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

N. Murphy, R. Hopkin, J. Marcos, 2004, American journal of medical genetics. Part A.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake

I. Knerr, A. Coughlan, E. Crushell, 2017, Journal of nutrition and metabolism.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

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

I. Knerr, E. Crushell, S. Murphy, 2020, JIMD reports.

Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder

J. Sass, E. Crushell, M. Fernando, 2017, Brain and Development.

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

T. Giese, H. Prokisch, C. Klein, 2021, Journal of Clinical Immunology.

Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels

I. Knerr, A. Coughlan, E. Crushell, 2019, JIMD reports.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

The clinical spectrum of the m.10191T>C mutation in complex I‐deficient Leigh syndrome

Robert W. Taylor, E. Crushell, P. Morrison, 2012, Developmental medicine and child neurology.

Liquid paraffin: a reappraisal of its role in the treatment of constipation

E. Crushell, B. Bourke, K. O'Driscoll, 2001, Archives of disease in childhood.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland

T. Kroll, P. Larkin, E. Crushell, 2021, Therapeutic advances in rare disease.

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

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

I. Knerr, J. Häberle, V. Rüfenacht, 2020, Journal of inherited metabolic disease.

A prospective study of the oral manifestations of Crohn's disease.

E. Crushell, P. Fleming, B. Drumm, 2005, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

I. T. de Almeida, H. Blom, M. Hochuli, 2016, Journal of Inherited Metabolic Disease.

Biopsychosocial approach to functional abdominal pain.

E. Crushell, M. Rowland, 2005, Archives of disease in childhood.

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Robert W. Taylor, H. Prokisch, P. Clayton, 2016, Journal of Medical Genetics.

Cyclic vomiting syndrome masking a fatal metabolic disease

E. Crushell, M. Fitzgerald, C. Hickey, 2013, European Journal of Pediatrics.

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

J. Fryns, L. Garavelli, M. L. Cavaliere, 2004, European Journal of Human Genetics.

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy

B. Pode-Shakked, Y. Anikster, E. Crushell, 2022, Human Genetics.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

S. Bhaskar, S. Banka, S. Douzgou, 2017, Archives of Disease in Childhood.

A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders

I. Knerr, E. Crushell, A. A. Monavari, 2016, European Journal of Pediatrics.

Occlusion of an aberrant artery to a pulmonary sequestration using a duct occluder.

E. Crushell, A. Saidi, K. Walsh, 2002, Journal of interventional cardiology.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

Wong, J. Casey, I. Knerr, 2015, Journal of Inherited Metabolic Disease.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Intussusception associated with bacterial meningitis

O. Flanagan, E. Crushell, K. Dunne, 2001, Archives of disease in childhood.

A Long-term Retrospective Evaluation of Functional and Radiographic Outcomes of Pediatric Hip Surgery in Hurler Syndrome

K. Mulhall, E. Fogarty, E. Crushell, 2015, Journal of pediatric orthopedics.

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

I. Knerr, E. Crushell, J. Hughes, 2022, European Journal of Pediatrics.

Catalogue of inherited disorders found among the Irish Traveller population

J. Casey, A. Green, S. Ennis, 2018, Journal of Medical Genetics.

Enteric Campylobacter: Purging Its Secrets?

E. Crushell, B. Bourke, F. Sharif, 2004, Pediatric Research.

Metabolic disorders

E. Crushell, Mary King, 2010, Journal of Pediatric Neurology.

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

I. Knerr, E. Crushell, N. McSweeney, 2020, JIMD reports.

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

M. Patterson, B. Bembi, P. Gissen, 2021, Orphanet Journal of Rare Diseases.

Importance of parental conceptual model of illness in severe recurrent abdominal pain.

E. Crushell, M. Doherty, B. Drumm, 2003, Pediatrics.

N-glycan abnormalities in children with galactosemia.

Pauline M Rudd, Barbara Adamczyk, Henning Stöckmann, 2014, Journal of proteome research.

Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience

N. Murphy, C. McDonnell, I. Knerr, 2022, Journal of clinical medicine.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

S. Wortmann, N. Voermans, L. Al-Gazali, 2020, Molecular genetics and metabolism.

Elevated TSH levels in a mentally retarded boy

W. Reardon, E. Crushell, 2010, European Journal of Pediatrics.

As Few Pediatricians as Possible and as Many Pediatricians as Necessary?

J. Ehrich, Jana Fruth, M. Pettoello‐Mantovani, 2018, The Journal of pediatrics.

Prevention and Therapeutic Innovation in the Management of Child Health

M. Pettoello‐Mantovani, L. Namazova-Baranova, H. Hoey, 2019, The Journal of pediatrics.

Parental Perceptions Regarding the Impact of Housing on Child Health.

H. Bedford, E. Crushell, N. O' Brien, 2022, Irish medical journal.

Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review

H. Bedford, E. Crushell, N. Quinn, 2022, BMJ Paediatrics Open.

Glycogen storage disease type III in the Irish population

M. Durkie, E. Crushell, E. Treacy, 2010, Journal of Inherited Metabolic Disease.

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Robert W. Taylor, J. Casey, S. Ennis, 2015, JIMD reports.

Reversible multiorgan system involvement in a neonate with complex IV deficiency.

E. Crushell, E. Treacy, S. Ryan, 2008, Pediatric neurology.

Amino Acids and Inherited Amino Acid-Related Disorders

J. Sass, I. Knerr, E. Crushell, 2018, Journal of nutrition and metabolism.

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

R. Regan, J. Conroy, J. Casey, 2012, Molecular genetics and metabolism.

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

H. Prokisch, P. Clayton, I. Knerr, 2016, Journal of Medical Genetics.

The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience

E. Crushell, M. Cotter, C. Hart, 2021, JIMD reports.

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

J. Casey, S. Ennis, M. King, 2015, JIMD reports.

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

J. Casey, I. Knerr, E. Crushell, 2015, Journal of Inherited Metabolic Disease.

Genetic landscape of pediatric acute liver failure of indeterminate origin

T. Meitinger, H. Prokisch, C. Sokollik, 2023, Hepatology.