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	1.	New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome. [electronic resource] by Glamuzina, Emma Aftimos, Salim Keesing, Melissa Mahadevan, Murali Producer: 20110819 In: International journal of pediatric otorhinolaryngology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Citrullinaemia type I: a common mutation in the Pacific Island population. [electronic resource] by Glamuzina, Emma Marquis-Nicholson, Renate Knoll, Detlef Love, Donald R Wilson, Callum Producer: 20110930 In: Journal of paediatrics and child health vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. [electronic resource] by Wilson, Callum Knoll, Detlef de Hora, Mark Kyle, Campbell Glamuzina, Emma Webster, Dianne Publication details: JIMD reports 2017 In: JIMD reports vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points. [electronic resource] by Glamuzina, Emma Fettes, Emma Bainbridge, Katie Crook, Victoria Finnegan, Niamh Abulhoul, Lara Vellodi, Ashok Producer: 20111024 In: Journal of inherited metabolic disease vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. [electronic resource] by Glamuzina, Emma Brown, Ruth Hogarth, Kieran Saunders, Dawn Russell-Eggitt, Isabelle Pitt, Matthew de Sousa, Carlos Rahman, Shamima Brown, Garry Grunewald, Stephanie Producer: 20120809 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	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. [electronic resource] by Ryder, Bryony Knoll, Detlef Love, Donald R Shepherd, Phillip Love, Jennifer M Reed, Peter W de Hora, Mark Webster, Dianne Glamuzina, Emma Wilson, Callum Producer: 20171207 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. [electronic resource] by Hedberg-Oldfors, Carola Glamuzina, Emma Ruygrok, Peter Anderson, Lisa J Elliott, Perry Watkinson, Oliver Occleshaw, Chris Abernathy, Malcolm Turner, Clinton Kingston, Nicola Murphy, Elaine Oldfors, Anders Producer: 20171204 In: Journal of inherited metabolic disease vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Compound heterozygous [electronic resource] by Whitford, Whitney Hawkins, Isobel Glamuzina, Emma Wilson, Francessa Marshall, Andrew Ashton, Fern Love, Donald R Taylor, Juliet Hill, Rosamund Lehnert, Klaus Snell, Russell G Jacobsen, Jessie C Producer: 20180101 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. [electronic resource] by Jacobsen, Jessie C Wilson, Callum Cunningham, Vicki Glamuzina, Emma Prosser, Debra O Love, Donald R Burgess, Trent Taylor, Juliet Swan, Brendan Hill, Rosamund Robertson, Stephen P Snell, Russell G Lehnert, Klaus Producer: 20161213 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. [electronic resource] 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 Producer: 20151120 In: Case reports in genetics vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. [electronic resource] by Michot, Caroline Hubert, Laurence Romero, Norma B Gouda, Amr Mamoune, Asmaa Mathew, Suja Kirk, Edwin Viollet, Louis Rahman, Shamima Bekri, Soumeya Peters, Heidi McGill, James Glamuzina, Emma Farrar, Michelle von der Hagen, Maya Alexander, Ian E Kirmse, Brian Barth, Magalie Laforet, Pascal Benlian, Pascale Munnich, Arnold JeanPierre, Marc Elpeleg, Orly Pines, Ophry Delahodde, Agnès de Keyzer, Yves de Lonlay, Pascale Producer: 20130405 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)