Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS)

By Hager Elizabeth  

Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 159-168

Springer Publishing Company

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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

Springer Publishing Company

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Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration

By Kuo Y.   Hayflick S.   Gitschier J.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 3, 2007-06 ,pp. : 310-317

Springer Publishing Company

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Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome

By Korade Zeljka  

Journal of Inherited Metabolic Disease, Vol. 36, Iss. 1, 2013-01 ,pp. : 113-122

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The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity

By Fukao T.   Zhang G.-X.   Sakura N.   Kubo T.   Yamaga H.   Hazama A.   Kohno Y.   Matsuo N.   Kondo M.   Yamaguchi S.   Shigematsu Y.   Kondo N.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 423-431

Springer Publishing Company

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