A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy

By Lee J.   Yoon H.   Paik K.   Hwang S.   Shim J.   Chang Y.   Park W.   Strauss A.   Jin D.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 4, 2003-06 ,pp. : 403-406

Springer Publishing Company

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Carnitine–acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient

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Journal of Inherited Metabolic Disease, Vol. 27, Iss. 2, 2004-01 ,pp. : 267-273

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Ascorbic Acid Deficiency: A Case Report

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Journal of Dentistry for Children, Vol. 78, Iss. 2, 2011-07 ,pp. : 115-119

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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

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Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency

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Journal of Inherited Metabolic Disease, Vol. 28, Iss. 1, 2005-01 ,pp. : 49-55

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