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Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Published in:
2019
By:
- Visuttijai, Kittichate;
- Carola, Hedberg-Oldfors;
- Thomsen, Christer;
- Glamuzina, Emma;
- Kornblum, Cornelia;
- Tasca, Giorgio;
- Hernandez-Lain, Aurelio;
- Sandstedt, Joakim;
- Dellgren, Göran;
- Roach, Peter;
- Oldfors, Anders;
- Hedberg-Oldfors, Carola
Publication type:
journal article
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Published in:
2015
By:
- Jacobsen, Jessie C.;
- Glamuzina, Emma;
- Taylor, Juliet;
- Swan, Brendan;
- Handisides, Shona;
- Wilson, Callum;
- Fietz, Michael;
- van Dijk, Tessa;
- Appelhof, Bart;
- Hill, Rosamund;
- Marks, Rosemary;
- Love, Donald R.;
- Robertson, Stephen P.;
- Snell, Russell G.;
- Lehnert, Klaus
Publication type:
Case Study
Citrullinaemia type I: A common mutation in the Pacific Island population.
Published in:
Journal of Paediatrics & Child Health, 2011, v. 47, n. 5, p. 262, doi. 10.1111/j.1440-1754.2010.01948.x
By:
- Glamuzina, Emma;
- Marquis-Nicholson, Renate;
- Knoll, Detlef;
- Love, Donald R.;
- Wilson, Callum
Publication type:
Article
Mitochondrial disease in New Zealand: a nationwide prevalence study.
Published in:
Internal Medicine Journal, 2024, v. 54, n. 3, p. 388, doi. 10.1111/imj.16211
By:
- Missen, Sarah;
- Wilson, Callum;
- Potter, Howard;
- Vincent, Andrea L.;
- Murphy, Rinki;
- Roxburgh, Richard;
- Rodrigues, Miriam;
- Poke, Gemma;
- Robertson, Stephen P.;
- Thorburn, David R.;
- Glamuzina, Emma
Publication type:
Article
Two cases of infantile beriberi causing cardiorespiratory arrest in New Zealand.
Published in:
Journal of Paediatrics & Child Health, 2023, v. 59, n. 3, p. 565, doi. 10.1111/jpc.16331
By:
- Coleman, Oliver;
- Gilmour, Leeyan;
- Smith, Rebecca;
- Bernhardt, Isaac;
- Ryder, Bryony;
- Glamuzina, Emma;
- Hunter, Wendy
Publication type:
Article
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 223, doi. 10.1002/jmd2.12360
By:
- Poquérusse, Jessie;
- Nolan, Melinda;
- Thorburn, David R.;
- Van Hove, Johan L. K.;
- Friederich, Marisa W.;
- Love, Donald R.;
- Taylor, Juliet;
- Powell, Christopher A.;
- Minczuk, Michal;
- Snell, Russell G.;
- Lehnert, Klaus;
- Glamuzina, Emma;
- Jacobsen, Jessie C.
Publication type:
Article
The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 180, doi. 10.1002/jmd2.12339
By:
- Bernhardt, Isaac;
- Glamuzina, Emma;
- Ryder, Bryony;
- Knoll, Detlef;
- Heather, Natasha;
- De Hora, Mark;
- Webster, Dianne;
- Wilson, Callum
Publication type:
Article
Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.
Published in:
2022
By:
- Bernhardt, Isaac;
- Glamuzina, Emma;
- Dowsett, Leah K.;
- Webster, Dianne;
- Knoll, Detlef;
- Carpenter, Kevin;
- Bennett, Michael J.;
- Maeda, Michelle;
- Wilson, Callum
Publication type:
Case Study
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 903, doi. 10.1002/jimd.12371
By:
- Ryder, Bryony;
- Inbar‐Feigenberg, Michal;
- Glamuzina, Emma;
- Halligan, Rebecca;
- Vara, Roshni;
- Elliot, Aoife;
- Coman, David;
- Minto, Tahlee;
- Lewis, Katherine;
- Schiff, Manuel;
- Vijay, Suresh;
- Akroyd, Rhonda;
- Thompson, Sue;
- MacDonald, Anita;
- Woodward, Abigail J. M.;
- Gribben, Joanne. E. L.;
- Grunewald, Stephanie;
- Belaramani, Kiran;
- Hall, Madeleine;
- Haak, Natalie
Publication type:
Article
The decision to discontinue screening for carnitine uptake disorder in New Zealand.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 86, doi. 10.1002/jimd.12030
By:
- Wilson, Callum;
- Knoll, Detlef;
- de Hora, Mark;
- Kyle, Campbell;
- Glamuzina, Emma;
- Webster, Dianne
Publication type:
Article
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 139, doi. 10.1007/s10545-016-9978-1
By:
- Hedberg-Oldfors, Carola;
- Glamuzina, Emma;
- Ruygrok, Peter;
- Anderson, Lisa;
- Elliott, Perry;
- Watkinson, Oliver;
- Occleshaw, Chris;
- Abernathy, Malcolm;
- Turner, Clinton;
- Kingston, Nicola;
- Murphy, Elaine;
- Oldfors, Anders
Publication type:
Article
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 409, doi. 10.1007/s10545-015-9911-z
By:
- Ryder, Bryony;
- Knoll, Detlef;
- Love, Donald;
- Shepherd, Phillip;
- Love, Jennifer;
- Reed, Peter;
- Hora, Mark;
- Webster, Dianne;
- Glamuzina, Emma;
- Wilson, Callum
Publication type:
Article
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 305, doi. 10.1007/s10545-015-9897-6
By:
- Jacobsen, Jessie;
- Wilson, Callum;
- Cunningham, Vicki;
- Glamuzina, Emma;
- Prosser, Debra;
- Love, Donald;
- Burgess, Trent;
- Taylor, Juliet;
- Swan, Brendan;
- Hill, Rosamund;
- Robertson, Stephen;
- Snell, Russell;
- Lehnert, Klaus
Publication type:
Article
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1119, doi. 10.1007/s10545-012-9461-6
By:
- Michot, Caroline;
- Hubert, Laurence;
- Romero, Norma;
- Gouda, Amr;
- Mamoune, Asmaa;
- Mathew, Suja;
- Kirk, Edwin;
- Viollet, Louis;
- Rahman, Shamima;
- Bekri, Soumeya;
- Peters, Heidi;
- McGill, James;
- Glamuzina, Emma;
- Farrar, Michelle;
- Hagen, Maya;
- Alexander, Ian;
- Kirmse, Brian;
- Barth, Magalie;
- Laforet, Pascal;
- Benlian, Pascale
Publication type:
Article
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 459, doi. 10.1007/s10545-011-9413-6
By:
- Glamuzina, Emma;
- Brown, Ruth;
- Hogarth, Kieran;
- Saunders, Dawn;
- Russell-Eggitt, Isabelle;
- Pitt, Matthew;
- Sousa, Carlos;
- Rahman, Shamima;
- Brown, Garry;
- Grunewald, Stephanie
Publication type:
Article
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
Published in:
Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 749, doi. 10.1007/s10545-011-9280-1
By:
- Glamuzina, Emma;
- Fettes, Emma;
- Bainbridge, Katie;
- Crook, Victoria;
- Finnegan, Niamh;
- Abulhoul, Lara;
- Vellodi, Ashok
Publication type:
Article
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
By:
- Scala, Marcello;
- Wortmann, Saskia B.;
- Kaya, Namik;
- Stellingwerff, Menno D.;
- Pistorio, Angela;
- Glamuzina, Emma;
- van Karnebeek, Clara D.;
- Skrypnyk, Cristina;
- Iwanicka‐Pronicka, Katarzyna;
- Piekutowska‐Abramczuk, Dorota;
- Ciara, Elżbieta;
- Tort, Frederic;
- Sheidley, Beth;
- Poduri, Annapurna;
- Jayakar, Parul;
- Jayakar, Anuj;
- Upadia, Jariya;
- Walano, Nicolette;
- Haack, Tobias B.;
- Prokisch, Holger
Publication type:
Article
Fatal hyperammonemia associated with disseminated Serratia marcescens infection in a pediatric liver transplant recipient.
Published in:
Pediatric Transplantation, 2018, v. 22, n. 4, p. 1, doi. 10.1111/petr.13180
By:
- Mouat, Stephen;
- Bishop, Jonathan;
- Glamuzina, Emma;
- Chin, Simon;
- Best, Emma J.;
- Evans, Helen M.
Publication type:
Article

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