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23. [Laboratory diagnosis of lipid metabolism anomalies]. Eto Y Nihon Rinsho; 1979 Jun; Suppl():1624-9. PubMed ID: 490955 [No Abstract] [Full Text] [Related]
24. [Mucolipidosis type II (inclusion cell disease). Study of a case and review of the literature]. de Montis G; Garnier P; Thomassin N; Job JC; Rossier A Ann Pediatr (Paris); 1972 May; 19(5):369-79. PubMed ID: 4262433 [No Abstract] [Full Text] [Related]
25. An enzyme histochemical and ultrastructural study on cultured fibroblasts: a new triglyceride storage disorder. Sethi NC; Moynahan EJ; Stimmler L Indian Pediatr; 1982 May; 19(5):401-6. PubMed ID: 7141653 [No Abstract] [Full Text] [Related]
26. A case of GM2-gangliosidosis with total hexosaminidase deficiency. Suzuki Y; Jacob JC; Suzuki K; Suzuki K Neurology; 1970 Apr; 20(4):388. PubMed ID: 5535009 [No Abstract] [Full Text] [Related]
27. Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5. Badeloe S; van Geel M; Nagtzaam I; Rubio-Gozalbo ME; Oei RL; Steijlen PM; van Steensel MA Br J Dermatol; 2008 Jun; 158(6):1378-80. PubMed ID: 18410411 [No Abstract] [Full Text] [Related]
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34. Inborn errors of organic acid metabolism. Green A Br J Hosp Med; 1989 May; 41(5):426-30, 432, 434. PubMed ID: 2663104 [TBL] [Abstract][Full Text] [Related]
35. [Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children]. Xie LJ; Zhu JX; Zhu XD; Li HJ; Han LS; Gu XF Zhongguo Dang Dai Er Ke Za Zhi; 2008 Feb; 10(1):31-4. PubMed ID: 18289467 [TBL] [Abstract][Full Text] [Related]
37. [Application of electron microscopy to pediatric diseases with special reference to neoplasms and lipidoses]. Misugi K; Toyosaka A; Kimura S; Misugi N Rinsho Byori; 1972 Oct; 20(10):741-6. PubMed ID: 4675150 [No Abstract] [Full Text] [Related]
39. [New research on cerebro-tendinal xanthomatosis]. Van Bogaert L; Philippart M; De Barsy T Rev Neurol (Paris); 1969 Jul; 121(1):98-100. PubMed ID: 5367422 [No Abstract] [Full Text] [Related]
40. Diagnostic and therapeutic applications of sphingolipid hydrolyzing enzymes. Brady RO Curr Top Cell Regul; 1985; 26():39-50. PubMed ID: 3935381 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]