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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
by
Alston, Charlotte L.
,
Heidler, Juliana
,
Dibley, Marris G.
,
Kremer, Laura S.
,
Taylor, Lucie S.
,
Fratter, Carl
,
French, Courtney E.
,
Glasgow, Ruth I.C.
,
Feichtinger, René G.
,
Delon, Isabelle
,
Pagnamenta, Alistair T.
,
Dolling, Helen
,
Lemonde, Hugh
,
Aiton, Neil
,
Bjørnstad, Alf
,
Henneke, Lisa
,
Gärtner, Jutta
,
Thiele, Holger
,
Tauchmannova, Katerina
,
Quaghebeur, Gerardine
,
Houstek, Josef
,
Sperl, Wolfgang
,
Raymond, F. Lucy
,
Prokisch, Holger
,
Mayr, Johannes A.
,
McFarland, Robert
,
Poulton, Joanna
,
Ryan, Michael T.
,
Wittig, Ilka
,
Henneke, Marco
,
Taylor, Robert W.
Published in
American journal of human genetics
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Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK
by
Carling, Rachel S
,
Hedgethorne, Katy
,
Chakrapani, Anupam
,
Hall, Patricia L
,
Flynn, Nick
,
Greenfield, Toby
,
Moat, Stuart J
,
Ssali, Joshua
,
Shakespeare, Lynette
,
Taj, Nazia
,
Wu, Teresa H Y
,
Anderson, Mark
,
Ghosh, Arunabha
,
Lemonde, Hugh
,
Pierre, Germaine
,
Sharrard, Mark
,
Sreekantam, Sreevidya
,
Bonham, James R
Published in
International journal of neonatal screening
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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
by
Seker Yilmaz, Berna
,
Baruteau, Julien
,
Chakrapani, Anupam
,
Champion, Michael
,
Chronopoulou, Efstathia
,
Claridge, Lee C.
,
Daly, Anne
,
Davies, Catherine
,
Davison, James
,
Dhawan, Anil
,
Grunewald, Stephanie
,
Gupte, Girish L.
,
Heaton, Nigel
,
Lemonde, Hugh
,
McKiernan, Pat
,
Mills, Philippa
,
Morris, Andrew A.M.
,
Mundy, Helen
,
Pierre, Germaine
,
Rajwal, Sanjay
,
Sivananthan, Siyamini
,
Sreekantam, Srividya
,
Stepien, Karolina M.
,
Vara, Roshni
,
Yeo, Mildrid
,
Gissen, Paul
Published in
Molecular genetics and metabolism reports
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A New Method for the Rapid Diagnosis of Protein N‑linked Congenital Disorders of Glycosylation
by
Heywood, Wendy E
,
Mills, Philippa
,
Grunewald, Stephanie
,
Worthington, Viki
,
Jaeken, Jaak
,
Carreno, Gabriela
,
Lemonde, Hugh
,
Clayton, Peter T
,
Mills, Kevin
Published in
Journal of proteome research
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Junior physician's use of Web 2.0 for information seeking and medical education: A qualitative study
by
Hughes, Benjamin
,
Joshi, Indra
,
Lemonde, Hugh
,
Wareham, Jonathan
Published in
International journal of medical informatics (Shannon, Ireland)
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Inherited mitochondrial disease
by
Lemonde, Hugh
,
Rahman, Shamima
Published in
Paediatrics and child health
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Peroxisomal D-hydroxyacyl-CoA Dehydrogenase Deficiency: Resolution of the Enzyme Defect and Its Molecular Basis in Bifunctional Protein Deficiency
by
Van Grunsven, Elisabeth G.
,
Van Berkel, Emanuel
,
Ijlst, Lodewijk
,
Vreken, Peter
,
Johannis B. C. De Klerk
,
Adamski, Jerzy
,
Lemonde, Hugh
,
Clayton, Peter T.
,
Cuebas, Dean A.
,
Ronald J. A. Wanders
Published in
Proceedings of the National Academy of Sciences - PNAS
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Inherited mitochondrial disease
by
Davison, James
,
Lemonde, Hugh
,
Rahman, Shamima
Published in
Paediatrics and child health
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Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria
by
Moat, Stuart J.
,
Schulenburg‐Brand, Danja
,
Lemonde, Hugh
,
Bonham, James R.
,
Weykamp, Cas W.
,
Mei, Joanne V.
,
Shortland, Graham S.
,
Carling, Rachel S.
Published in
Journal of inherited metabolic disease
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Newborn screening for inborn errors of metabolism
by
Korenev, Sergei
,
Lemonde, Hugh
,
Cleary, Maureen
,
Chakrapani, Anupam
Published in
Paediatrics and child health
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Newborn screening for inborn errors of metabolism
by
Lemonde, Hugh
,
Cleary, Maureen
,
Chakrapani, Anupam
Published in
Paediatrics and child health
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The identification of unusual bile acid metabolites by tandem mass spectrometry: use of low-energy collision-induced dissociation to produce informative spectra
by
Lemonde, Hugh A.
,
Johnson, Andrew W.
,
Clayton, Peter T.
Published in
Rapid communications in mass spectrometry
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