Browse by UCL people
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Number of items: 4.
Article
Broomfield, A;
Sweeney, MG;
Woodward, CE;
Fratter, C;
Morris, AM;
Leonard, JV;
Abulhoul, L;
... Rahman, S; + view all
(2015)
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
Journal of Inherited Metabolic Disease
, 38
(3)
pp. 445-457.
10.1007/s10545-014-9778-4.
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Ferdinandusse, S;
Waterham, HR;
Heales, SJ;
Brown, GK;
Hargreaves, IP;
Taanman, JW;
Gunny, R;
... Rahman, S; + view all
(2013)
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Orphanet J Rare Dis
, 8
(1)
, Article 188. 10.1186/1750-1172-8-188.
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Oerton, J;
Khalid, JM;
Besley, G;
Dalton, RN;
Downing, M;
Green, A;
Henderson, M;
... Dezateux, C; + view all
(2011)
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
J Med Screen
, 18
(4)
173 - 181.
10.1258/jms.2011.011086.
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Salisbury, DM;
Leonard, JV;
Dezateux, CA;
Savage, MO;
(1984)
Micropenis: an important early sign of congenital hypopituitarism.
British Medical Journal (Clinical Research Edition)
, 288
(6417)
621 - 622.
10.1136/bmj.288.6417.621.
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