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Ophthalmic Genetics|January 30, 2024
A proposal for an updated staging system for LCHADD retinopathyNida Wongchaisuwat, Melanie B Gillingham, Paul Yang, et al.Molecular Genetics and Metabolism|July 26, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiencyShawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|August 9, 2012
In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type miceNicole K Paulk, Karsten Wursthorn, Annelise Haft, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|January 31, 1992
A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiencyK M Gibson, C F Lee, V Kamali, et al.Journal of Neurogenetics|September 1, 1984
Succinic semialdehyde dehydrogenase deficiencyK M Gibson, L Sweetman, W L Nyhan, et al.Klinische Padiatrie|March 1, 1990
[3-hydroxy-3-methylglutaraturia. Clinical aspects, follow-up and therapy in a young child]E Plöchl, C Bachmann, J P Colombo, et al.Clinical Radiology|October 18, 2001
3D gadolinium-enhanced MRI venography: evaluation of central chest veins and impact on patient managementJ W Oxtoby, E Widjaja, K M Gibson, et al.American Journal of Human Genetics|July 1, 1984
Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblastsO Sovik, L Sweetman, K M Gibson, et al.Clinical Chemistry|February 1, 1992
Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiencyE Plöchl, J P Colombo, B Wermuth, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|September 15, 1989
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detectionK Narisawa, K M Gibson, L Sweetman, et al.Pageof 25