Pediatric Metabolic Diseases

作者: Enid Gilbert-Barness , Thora S. Steffensen , Dennis R. Johnson

DOI: 10.1007/978-1-61779-403-2_38

关键词:

摘要:

参考文章(146)
K Higaki, K Ohno, [Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. Ryōikibetsu shōkōgun shirīzu. pp. 360- 362 ,(1998)
Hauck S, Förster C, Bise K, Kadenbach B, Pongratz D, Paetzke I, Müller-Höcker J, Hübner G, Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency. Archives of Pathology & Laboratory Medicine. ,vol. 117, pp. 202- 210 ,(1993)
R. A. Chalmers, A. M. Lawson, Disorders of propionate and methylmalonate metabolism Springer, Dordrecht. pp. 296- 331 ,(1982) , 10.1007/978-94-009-5778-7_11
Ali Qizilbash, Oliver Young-Pong, Alpha 1 antitrypsin liver disease differential diagnosis of PAS-positive, diastase-resistant globules in liver cells. American Journal of Clinical Pathology. ,vol. 79, pp. 697- 702 ,(1983) , 10.1093/AJCP/79.6.697
R J Desnick, K H Astrin, P Aula, U Francke, Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter). American Journal of Human Genetics. ,vol. 36, pp. 1215- 1224 ,(1984)
Valerie Mayne, David M. Danks, Elizabeth Cartwright, Peter E. Campbell, Brian J. Stevens, MENKES'S KINKY HAIR SYNDROME: An Inherited Defect in Copper Absorption With Widespread Effects Pediatrics. ,vol. 50, pp. 188- 201 ,(1972)
Frederick T. Zugibe, Enid F. Gilbert, Dominic Gaziano, Glycoprotein storage disease The American Journal of Medicine. ,vol. 47, pp. 135- 140 ,(1969) , 10.1016/0002-9343(69)90247-2
William Krivit, Robert J. Desnick, J. Lee, J. Moller, Francis Wright, Charles C. Sweeley, Paul D. Snyder, Harvey L. Sharp, Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain The American Journal of Medicine. ,vol. 52, pp. 763- 770 ,(1972) , 10.1016/0002-9343(72)90082-4
L. L. Oligny, Edith Louise Potter, Raj P. Kapur, Enid Gilbert-Barness, Joseph Robert Siebert, Potter's pathology of the fetus, infant and child Mosby Elsevier. ,(2007)