Search Results - "CRUSHELL, Ellen"

Consensus clinical management guidelines for Niemann-Pick disease type C by Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T, Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J, Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A, Ory, Daniel, Bembi, Bruno, Patterson, Marc

“…Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in…”
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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency by Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., Chapman, Kimberly A.

“…Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine…”
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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) by Bolton, Shaun C, Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C, Vanier, Marie T, Geberhiwot, Tarekegn

“…Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going…”
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Identification of a mutation in LARS as a novel cause of infantile hepatopathy by Casey, Jillian P., McGettigan, Paul, Lynam-Lennon, Niamh, McDermott, Michael, Regan, Regina, Conroy, Judith, Bourke, Billy, Sullivan, Jacintha O', Crushell, Ellen, Lynch, SallyAnn, Ennis, Sean

“…Infantile hepatopathies are life-threatening liver disorders that manifest in the first few months of life. We report on a consanguineous Irish Traveller…”
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Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma by Foran, Jason, Moore, Michael, Crushell, Ellen, Knerr, Ina, McSweeney, Niamh

“…A 4‐year‐old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a…”
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Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review by O' Brien, Niamh, Quinn, Nuala, Joyce, Birgitta, Bedford, Helen, Crushell, Ellen

“…IntroductionDespite increasing prevalence, European family homelessness remains under-researched.MethodsA retrospective review was performed of homeless…”
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O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU) by Pramparo, Tiziano, Chapman, Kimberly, Chen, Ying, Ficicioglu, Can, Levy, Harvey, Thomas, Janet, Vaidya, Sagar, Rodems, Steve, Crushell, Ellen

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Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience by Stepien, Karolina M., Treacy, Max, Katiri, Roulla, Treacy, Eileen P., Pastores, Gregory, Sheerin, Alison, Brosnahan, Donal, Crushell, Ellen, O’Byrne, James J.

“…Abstract Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase…”
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Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients by Healy, Lydia, O'Shea, Meabh, McNulty, Jennifer, King, Graham, Twomey, Eilish, Treacy, Eileen, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad Ardeshir

“…Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to…”
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Further evidence that d -glycerate kinase (GK) deficiency is a benign disorder by Kalim, Attia, Fitzsimons, Patricia, Till, Claudia, Fernando, Malkanthi, Mayne, Philip, Sass, Jorn Oliver, Crushell, Ellen

“…Abstract d -Glyceric aciduria is caused by deficiency in d -glycerate kinase (GK) due to recessive mutations in the GLYCTK gene. GK catalyzes the conversion of…”
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The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience by Hart, Caroline, McNulty, Jenny, Cotter, Melanie, Al Jasmi, Fatima, Crushell, Ellen, Monavari, Ahmad Ardeshir

“…Many patients with inborn errors of metabolism, due to early diagnosis and improved management, are living longer with less disease burden. Several are now…”
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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 by Rigat, Brigitte A., Tropak, Michael B., Buttner, Justin, Crushell, Ellen, Benedict, Daphne, Callahan, John W., Martin, Douglas R., Mahuran, Don J.

“…Deficiencies of lysosomal β-D-galactosidase can result in GM1 gangliosidosis, a severe neurodegenerative disease characterized by massive neuronal storage of…”
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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 by Conlon, Tracey A., Fitzsimons, Patricia E., Borovickova, Ingrid, Kirby, Fidelma, Murphy, Sinéad, Knerr, Ina, Crushell, Ellen

“…Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA (HMG Co‐A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has…”
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GP229 The use of the ketogenic diet in a metabolic patient with glycogen storage disease type IIIa by Merrigan, Christine, Purcell, Orla, Forbes, Eimear, Nulty, Jenny Mc, Lally, Emma, Crushell, Prof Ellen

“…BackgroundGlycogen Storage Disease (GSD) Type IIIa is a recessively inherited disorder caused by a deficiency in the debranching enzyme amylo-1,6-glucosidase…”
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Amino Acids and Inherited Amino Acid-Related Disorders by Knerr, Ina, Bernstein, Laurie, Crushell, Ellen, O’Sullivan, Siobhan, Sass, Jörn Oliver

“…In this special issue of the Journal of Nutrition and Metabolism, we focus on the various inborn errors of amino acid metabolism, their diagnostic challenges,…”
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Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results by Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad, Daly, Eimear, Coughlan, Aoife, Branagan, Peter, Newcombe, Nicola, Macauley, Margaret, Corcoran, Emma, Deverell, Deirdre, Clark, Anne, Moore Heslin, Aoibhin

“…The Metabolic Dietetic Team in the National Centre for Inherited Metabolic Disorders (NCIMD) in Ireland deals with approximately 120 weekly phenylalanine (Phe)…”
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Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake by Knerr, Ina, Crushell, Ellen, Monavari, Ahmad, Mayne, Philip, Deverell, Deirdre, Clark, Anne, McNulty, Jenny, Grant, Tim, Coughlan, Aoife, Purcell, Orla, Hughes, Joanne

“…A low methionine diet is the mainstay of treatment for pyridoxine nonresponsive homocystinuria (HCU). There are various guidelines for recommended protein…”
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Reversible Multiorgan System Involvement in a Neonate With Complex IV Deficiency by Low, Evonne, MB, Crushell, Ellen B., MB, Harty, Sinead B., MB, Ryan, Stephanie P., MB, Treacy, Eileen P., MD

“…Mitochondrial respiratory chain deficiencies can present as fulminant liver failure or disease, and the prognosis when associated with severe neonatal lactic…”
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Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis by Shackleton, Cedric, Marcos, Josep, Malunowicz, Ewa M., Szarras-Czapnik, Maria, Jira, Petr, Taylor, Norman F., Murphy, Nuala, Crushell, Ellen, Gottschalk, Michael, Hauffa, Berthold, Cragun, Deborah L., Hopkin, Robert J., Adachi, Masanori, Arlt, Wiebke

“…Antley–Bixler syndrome (ABS, MIM 207410) is a skeletal abnormality syndrome primarily affecting head and limbs. Little is known of the origin of the condition…”
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Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities by Dunlea, Eoghan, Crushell, Ellen, Cotter, Melanie, Blau, Nenad, Ferreira, Carlos R

“…Many classical inherited metabolic diseases (IMDs) are associated with significant hematological complications such as anemia or thrombosis. While these may…”
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