Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

By Dursun Ali   Gucer Safak   Ebberink M.   Yigit Sule   Wanders R.   Waterham H.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 345-348

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Analysis of organic acids after incubation with (16-²H₃)palmitic acid in fibroblasts from patients with mitochondrial β-oxidation defects

By Osorio J. H.   Lluch M.   Ribes A.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 8, 2003-01 ,pp. : 795-803

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Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

By Yano S.   Li L.   Le T.   Moseley K.   Guedalia A.   Lee J.   Gonzalez I.   Boles R.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 481-488

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Leigh syndrome resulting from de novo mutation at position 8993 of mitochodrial DNA

By Seller A.   Kennedy C.R.   Temple I.K.   Brown G.K.  

Journal of Inherited Metabolic Disease, Vol. 20, Iss. 1, 1997-01 ,pp. : 102-103

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Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

By Barone R.   Carchon H.   Jansen E.   Pavone L.   Fiumara A.   Bosshard N.U.   Gitzelmann R.   Jaeken J.  

Journal of Inherited Metabolic Disease, Vol. 21, Iss. 2, 1998-04 ,pp. : 167-172

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