Литература
1. Reiner Z., Guardamagna O., Nair D. et al. Lysosomal acid lipase deficiency - an under-recognized cause of dyslipidaemia and liver dysfunction // Atherosclerosis. 2014. Vol. 235, N 1. Р. 21-30.
2. Scott S.A., Liu B., Nazarenko I. et al. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups // Hepatology. 2013. Vol. 58, N 3. Р. 958-965.
3. Muntoni S., Wiebusch H., Jansen-Rust M. et al. Prevalence of cholesteryl ester storage disease // Arterioscler. Thromb. Vasc. Biol. 2007. Vol. 27, N 3. P. 1866-1868.
4. Muntoni S., Wiebusch H., Funke H., Ros E. et al. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)// Hum. Genet. 1995. Vol. 95, N 5. P. 491-494.
5. Muntoni S., Wiebusch H., Jansen-Rust M. et al. Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations // Nutr. Metab. Cardiovasc. Dis. 2013. Vol. 23, N 8. P. 732-736.
6. Pericleous M., Kelly C., Wang T., Livingstone C. et al. Wolman’s disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency // Lancet Gastroenterol. Hepatol. 2017. Vol. 2, N 9. P. 670-679.
7. Santos Silva E., Klaudel-Dreszler M., Bakuta A., Oliva T. et al. Early onset lysosomal acid lipase deficiencypresenting as secondary hemo-phagocyticlymphohistiocytosis: two infants treatedwith sebelipase alfa // Clin. Res. Hepatol Gastroenterol. 2018. Vol. 42, N 5. P. 77-82.
8. Al Essa M., Nounou R., Sakati N. et al. Wolman’s disease: The King Faisal Specialist Hospital and Research Centre experience // Ann. Saudi Med. 1998. Vol. 18. P. 120-124.
9. Федяков М.А., Барбитов Ю.А., Серебрякова E.A, Первунина Т.М. и др. Исследование частоты распространения дефицита лизосомной кислой липазы в российской популяции. // Педиатр. фармакология. 2018. Т. 15, № 2. С. 184-185.
10. Агеева Н.В., Агапова И.А., Амелина Е.Л., Гундобина О.С. и др. Прогрессирующее заболевание печени: дефицит лизосомной кислой липазы (клинические наблюдения) // РМЖ. 2018. № 5 (II). С. 96-103.
11. Wolman M., Sterk V.V., Gatt S., Frenkel M. Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant // Pediatrics. 1961. Vol. 28, N 5. P. 742-757.
12. Assmann G., Seedorf U. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. / eds C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle D. New York : McGraw-Hill, 2001. P. 3551-3572.
13. Grabowski G., Du H., Charnas L. Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum // The Online Metabolic and Molecular Bases of Inherited Disease / eds D. Valle, A.L. Beaudet, B. Vogelstein B et al. New York, NY : McGraw-Hill, 2012.
14. Seedorf U., Wiebusch H., Muntoni S., Christensen N.C. et al. A novel variant of lysosomal acid lipase (Leu336->Pro) associated with acid lipase deficiency and cholesterol ester storage disease // Arterioscler. Thromb. Vasc. Biol. 1995. Vol. 15, N 6. P 773-778.
15. Pisciotta L., Fresa R., Bellocchio A., Pino E. et al. Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene // Mol. Genet. Metab. 2009. Vol. 97, N 2. P 143-148.
16. Frederickson D. Newly recognized disorders of cholesterol metabolism // Ann. Intern. Med. 1963. Vol. 58, N 4. P 718.
17. Schiff L., Schubert W.K., McAdams A.J., Spiegel E.L. et al. Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects // Am. J. Med. 1968. Vol. 44, N 4. P 538-546.
18. Beaudet A.L., Ferry G.D., Nichols B.L. Jr, Rosenberg H.S. Cholesterol ester storage disease: clinical, biochemical, and pathological studies // J. Pediatr. 1977. Vol. 90, N 6. P 910-914.
19. D’Agostino D., Bay L., Gallo G., Chamoles N. Cholesterol ester storage disease: clinical, biochemical, and pathological studies of four new cases // J. Pediatr. Gastroenterol. Nutr. 1988. Vol. 7, N 3. P 446-450.
20. Hanak J., Elleder M. Cholesterol ester storage disease (CESD) // Cesk. Pediatr. 1984. Vol. 39. P 721-725. (in Czech)
21. Lageron A, Gautier M, Scotto J. Clinical and histoenzymological peculiarities of cholesterol storage in 2 children of the same family // Arch. Fr. Pediatr. 1985. Vol. 42, suppl. 1. P 605-611. (in French)
22. Kunnert B., Pohlandt K., Ruschke I., Keller E. Cholesterol ester storage disease and sea-blue histiocytes // Zentralbl. Allg. Pathol. 1987. Vol. 133. P 517-525. (in German)
23. Besley G.T., Broadhead D.M., Lawlor E. et al. Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis // Clin. Genet. 1984. Vol. 26, N 3. P 195-203.
24. Edelstein R.A., Filling-Katz M.R., Pentchev P et al. Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess // Am. J. Gastroenterol. 1988.Vol. 83, N 6. P 687-692.
25. Hill S.C., Hoeg J.M., Dwyer A.J., Vucich J.J. et al. CT findings in acid lipase deficiency: Wolman disease and cholesteryl ester storage disease // J. Comput. Assist. Tomogr. 1983. Vol. 7, N 5. P. 815-818.
26. Баранов А.А., Намазова-Баранова Л.С., Гундобина О.С., Михайлова С.В. и др. Дефицит лизосомной кислой липазы: клинические рекомендации по оказанию медицинской помощи детям // Педиатр. фармакология. 2016. Т. 13, № 3. С. 239-243.
27. Строкова Т.В., Багаева М.Э., Сурков А.Г., Павловская Е.В., Таран Н.Н., Каменец Е.А., Захарова Е.Ю. Дефицит лизосомной кислой липазы // Российский вестник перинатологии и педиатрии. 2016. Т. 61. № 4. С. 154.
28. Goldstein J.L., Brown M.S. Regulation of low-density lipoprotein receptors: implications for pathogenesis and therapy of hypercholesterolemia and atherosclerosis // Circulation. 1987. Vol. 76, N 3. P 504-507.
29. Bernstein D.L., Hulkova H., Bialer M.G., Desnick R.J. Cholester-ylester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease // J. Hepatol. 2013. Vol. 58, N 6. P. 12301243.
30. Wolman M. Wolman disease and its treatment // Clin. Pediatr. (Phila). 1995. Vol. 34, N 4. P. 207-212.
31. Rao R.H., Mansbach C.M. II. Acid lipase in rat intestinal mucosa: physiological parameters // Biochim. Biophys. Acta. 1990. Vol. 1043, N 3. P. 273-280.
32. Negre-Salvayre A., Salvayre R. UV-treated lipoproteins as a model system for the study of the biological effects of lipid peroxides on cultured cells. 4. Calcium is involved in the cytotoxicity of UV-treated LDL on lymphoid cell lines // Biochim. Biophys. Acta. 1992. Vol. 1123, N 2. P 207215.
33. Byrd J.C. III, Powers J.M. Wolmans disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems // Acta Neuropathol. 1979. Vol. 45, N 1. P 37-42.
34. Henter J.I., Horne A., Arico M., Egeler R.M. et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistio-cytosis // Pediatr. Blood Cancer. 2007. Vol. 48. N 2. P 124-131.
35. Taurisano R., Maiorana A., De Benedetti F., Dionisi-Vici C. et al. Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation // Eur. J. Pediatr. 2014. Vol. 173, N 10. P 13911394.
36. Chatrath H., Keilin S., Attar B.M. Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult // Dig. Dis. Sci. 2009. Vol. 54, N. 1. P 168-173.
37. Valles-Ayoub Y., Esfandiarifard S., No D. et al. Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry // Genet. Test. Mol. Biomarkers. 2011. Vol. 15, N 6. P 395-398.
38. Desai P.K., Astrin K.H., Thung S.N. et al. Cholesteryl ester storage disease: pathologic changes in an affected fetus // Am. J. Med. Genet. 1987. Vol. 26, N 3. P. 689-698.
39. Thorogood A., Cook-Deegan R., Knoppers B.M. Public variant databases: liability? // Genet. Med. 2017. Vol. 19, N 7. P. 838-841.
40. Shome D.K., Al-Jishi E., Greally J.F., Malik N. et al. The Middle-East connection of Wolman Disease // Saudi Med. J. 2002. Vol. 23, N 5. P. 597-601.
41. Jones S.A., Vannayannopoulos V., Schneider E. et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants // Genet. Med. 2016. Vol. 18, N 5. P. 452-458.
42. Sen D., Satija L., Saxena S., Rastogi V. et al. A rare constellation of imaging findings in Wolman disease // Med. J. Armed Forces India. 2015. Vol. 71, suppl. 2. P. 448-451.
43. Hamilton J., Jones I., Srivastava R., Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using thein-hibitor Lalistat 2 // Clin. Chim. Acta. 2012. Vol. 413, N 15-16. P. 12071210.
44. Dairaku T., Iwamoto T., Nishimura M., Endo M. et al. A practical fluorometric assay method to measure lysosomal acid lipaseactivity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease // Mol. Genet. Metab. 2014. Vol. 111, N 2. P. 193196.
45. Christomanou H., Cap C. Prenatal monitoring for Wolmans disease in a pregnancy at risk: first case in the Federal Republic of Germany // Hum. Genet. 1981. Vol. 57, N 4. P. 440-441.
46. Desai P.K., Astrin K.H., Thung S.N. et al. Cholesteryl ester storage disease: pathologic changes in an affected fetus // Am. J. Med. Genet. 1987. Vol. 26, N 3. P. 689-698.
47. Aguisanda F., Thorne N., Zheng W. Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development // Curr. Chem. Genom. Transl. Med. 2017. Vol. 30, N 11. P. 1-18.
48. Panchagnula R., Britto C., Vinod J., Anuradha S. et al. Wolman’s disease e a case report.// Indian J. Pathol. Microbiol. 2000. Vol. 43, N 1. P. 91-92.
49. Hoffman E.P., Barr M.L., Giovanni M.A. et al. Lysosomal acid lipase deficiency // Gene Reviews (R) / eds R.A. Pagon, M.P. Adam, H.H. Ardinger et al. Seattle, WA : University of Washington, 1993.
50. FDA Approves First Drug to Treat a Rare Enzyme Disorder in Pediatric and Adult Patients. US Department of Health and Human Services, 2015.
51. Jones S.A., Plantaz D., Vara R. et al. Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency // Mol. Genet. Metab. 2015. Vol. 114, N 2. P. 59.
52. Jones S.A., Al Sayed M., Broomfield A.A. Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD) // Mol. Genet. Metab. 2018. Vol. 123, N 2. P. 72-73.
53. Yanir A., Allatif M.A., Weintraub M., Stepensky P. Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications // Mol. Genet. Metab. 2013. Vol. 109, N 2. P. 224-226.
54. Krivit W., Peters C., Dusenbery K. et al. Wolman disease successfully treated by bone marrow transplantation // Bone Marrow Transplant. 2000. Vol. 26, N 5. P. 567-570.
55. Stein J., Garty B.Z., Dror Y., Fenig E. et al. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation // Eur. J. Pediatr.2007. Vol. 166, N 7. P. 663-666.
References
1. Reiner Z., Guardamagna O., Nair D., et al. Lysosomal acid lipase deficiency - an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014; 235 (1): 21-30.
2. Scott S.A., Liu B., Nazarenko I., et al. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology. 2013; 58 (3): 958-65.
3. Muntoni S., Wiebusch H., Jansen-Rust M., et al. Prevalence of cholesteryl ester storage disease. Arterioscler Thromb Vasc Biol. 2007; 27 (3): 1866-68.
4. Muntoni S., Wiebusch H., Funke H., Ros E., et al. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). Hum Genet. 1995; 95 (5): 491-94.
5. Muntoni S., Wiebusch H., Jansen-Rust M., et al. Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations. Nutr Metab Cardiovasc Dis. 2013; 23 (8): 732-36.
6. Pericleous M., Kelly C., Wang T., Livingstone C., et al. Wolman’s disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017; 2 (9): 670-79.
7. Santos Silva E., Klaudel-Dreszler M., Bakuta A., Oliva T., et al. Early onset lysosomal acid lipase deficiencypresenting as secondary hemo-phagocyticlymphohistiocytosis: two infants treatedwith sebelipase alfa. Clin Res Hepatol Gastroenterol. 2018; 425: 77-82.
8. Al Essa M., Nounou R., Sakati N., et al. Wolman’s disease: The King Faisal Specialist Hospital and Research Centre experience. Ann Saudi Med. 1998; 18: 120-4.
9. Fedyakov М.А., Barbitov Y.A., Serebryakova E.A., Pervunina Т.М., et al. The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population. Pediatricheskaya farmakologiya [Pediatric Pharmacology]. 2018; 15 (2): 184-5. (in Russian)
10. Ageeva N.V., Agapova I.A., Amelina E.L., et al. Progressive liver disease: a deficiency of lysosomal acid lipase (clinical cases). Russkiy medit-sinskiy zhurnal [Russian Medical Journal]. 2018; 5 (II): 96-103. (in Russian)
11. Wolman M., Sterk V.V., Gatt S., Frenkel M. Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant. Pediatrics. 1961; 28 (5): 742-57.
12. Assmann G., Seedorf U. The metabolic and molecular bases of inherited disease. 8th ed. Edited by C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle. New York: McGraw-Hill, 2001: 3551-72.
13. Grabowski G., Du H., Charnas L. Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum. Edited by D. Valle, A.L. Beaudet, B. Vogelstein, et al. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill, 2012.
14. Seedorf U., Wiebusch H., Muntoni S., Christensen N.C., et al. A novel variant of lysosomal acid lipase (Leu336->Pro) associated with acid lipase deficiency and cholesterol ester storage disease. Arterioscler Thromb Vasc Biol. 1995; 15 (6): 773-8.
15. Pisciotta L., Fresa R., Bellocchio A., Pino E., et al. Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metab. 2009; 97 (2): 143-8.
16. Frederickson D. Newly recognized disorders of cholesterol metabolism. Ann Intern Med. 1963; 58 (4): 718.
17. Schiff L., Schubert W.K., McAdams A.J., Spiegel E.L., et al. Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects. Am J Med. 1968; 44 (4): 538-46.
18. Beaudet A.L., Ferry G.D., Nichols B.L. Jr, Rosenberg H.S. Cholesterol ester storage disease: clinical, biochemical, and pathological studies. J Pediatr. 1977; 90 (6): 910-14.
19. D’Agostino D., Bay L., Gallo G., Chamoles N. Cholesterol ester storage disease: clinical, biochemical, and pathological studies of four new cases. J Pediatr Gastroenterol Nutr. 1988; 7 (3): 446-50.
20. Hanak J., Elleder M. Cholesterol ester storage disease (CESD). Cesk Pediatr. 1984; 39: 721-25. (in Czech)
21. Lageron A., Gautier M., Scotto J. Clinical and histoenzymological peculiarities of cholesterol storage in 2 children of the same family. Arch Fr Pediatr. 1985; 42 (1): 605-11. (in French)
22. Kunnert B., Pohlandt K., Ruschke I., Keller E. Cholesterol ester storage disease and sea-blue histiocytes. Zentralbl Allg Pathol. 1987; 133: 517-25. (in German)
23. Besley G.T., Broadhead D.M., Lawlor E., et al. Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis. Clin Genet. 1984; 26 (3): 195-203.
24. Edelstein R.A., Filling-Katz M.R., Pentchev P., et al. Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess. Am J Gastroenterol. 1988; 83 (6): 687-92.
25. Hill S.C., Hoeg J.M., Dwyer A.J., Vucich J.J., et al. CT findings in acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. J Comput Assist Tomogr. 1983; 7 (5): 815-18.
26. Baranov A.A., Namazova-Baranova L.S., Gundobina O.S., Mikhailova S.V., et al. Deficiency of lysosomic acid lipase: clinical recommendations for child health care delivery. Pediatricheskaya farmakologiya [Pediatric Pharmacology]. 2016; 13 (3): 239-43. (in Russian)
27. Strokova T.V., Bagaeva M.E., Surkov A.G., Pavlovskaya E.V., et al. Deficiency of lysosomal acidic lipase. Rossiyskiy vestnik perinatologii i pe-diatrii [Russian Bulletin of Perinatology and Pediatrics]. 2016; 61 (4): 154. (in Russian)
28. Goldstein J.L., Brown M.S. Regulation of low-density lipoprotein receptors: implications for pathogenesis and therapy of hypercholesterolemia and atherosclerosis. Circulation. 1987; 76 (3): 504-7.
29. Bernstein D.L., Hulkova H., Bialer M.G., Desnick R.J. Cholester-ylester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013; 58 (6): 1230-43.
30. Wolman M. Wolman disease and its treatment. Clin Pediatr (Phila). 1995; 34 (4): 207-12.
31. Rao R.H., Mansbach C.M. II. Acid lipase in rat intestinal mucosa: physiological parameters. Biochim Biophys Acta. 1990; 1043 (3): 273-80.
32. Negre-Salvayre A., Salvayre R. UV-treated lipoproteins as a model system for the study of the biological effects of lipid peroxides on cultured cells. 4. Calcium is involved in the cytotoxicity of UV-treated LDL on lymphoid cell lines. Biochim Biophys Acta. 1992; 1123 (2): 207-15.
33. Byrd J.C. III, Powers J.M. Wolmans disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems. Acta Neu-ropathol. 1979; 45 (1); 37-42.
34. Henter J.I., Horne A., Arico M., Egeler R.M., et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007; 48 (2): 124-31.
35. Taurisano R., Maiorana A., De Benedetti F., Dionisi-Vici C., et al. Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation. Eur J Pediatr. 2014; 173 (10): 1391-4.
36. Chatrath H., Keilin S., Attar B.M. Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult. Dig Dis Sci. 2009; 54 (1): 168-73.
37. Valles-Ayoub Y., Esfandiarifard S., No D., et al. Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. Genet Test Mol Biomarkers. 2011; 15 (6): 395-8.
38. Desai P.K., Astrin K.H., Thung S.N., et al. Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet. 1987; 26 (3): 689-98.
39. Thorogood A., Cook-Deegan R., Knoppers B.M. Public variant databases: liability? Genet Med. 2017; 19 (7): 838-41.
40. Shome D.K., Al-Jishi E., Greally J.F., Malik N., et al. The Middle-East connection of Wolman Disease. Saudi Med J. 2002; 23 (5): 597-601.
41. Jones S.A., Vannayannopoulos V., Schneider E., et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2016; 18 (5): 452-8.
42. Sen D., Satija L., Saxena S., Rastogi V., et al. A rare constellation of imaging findings in Wolman disease. Med J Armed Forces India. 2015; 71 (2): 448-51.
43. Hamilton J., Jones I., Srivastava R., Galloway P A new method for the measurement of lysosomal acid lipase in dried blood spots using thein-hibitor Lalistat 2. Clin Chim Acta. 2012; 413 (15-16): 1207-10.
44. Dairaku T., Iwamoto T., Nishimura M., Endo M., et al. A practical fluorometric assay method to measure lysosomal acid lipaseactivity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease. Mol Genet Metab. 2014; 111 (2): 193-6.
45. Christomanou H., Cap C. Prenatal monitoring for Wolmans disease in a pregnancy at risk: first case in the Federal Republic of Germany. Hum Genet. 1981; 57 (4): 440-1.
46. Desai P.K., Astrin K.H., Thung S.N., et al. Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet. 1987; 26 (3): 689-98.
47. Aguisanda F., Thorne N., Zheng W. Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development. Curr Chem Genom Transl Med. 2017; 30 (11): 1-18.
48. Panchagnula R., Britto C., Vinod J., Anuradha S., et al. Wol-man’s disease e a case report. Indian. J Pathol Microbiol. 2000; 43 (1): 91-2.
49. Hoffman E.P., Barr M.L., Giovanni M.A., et al. Lysosomal acid lipase deficiency. Edited by R.A. Pagon, M.P. Adam, H.H. Ardinger, et al. Gene Reviews (R). Seattle, WA: University of Washington, 1993.
50. FDA approves first drug to treat a rare enzyme disorder in pediatric and adult patients. US Department of Health and Human Services, 2015.
51. Jones S.A., Plantaz D., Vara R., et al. Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency. Mol Genet Metab. 2015; 114 (2): 59.
52. Jones S.A., AlSayed M., Broomfield A.A. Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD). Mol Genet Metab. 2018; 123 (2): 72-3.
53. Yanir A., Allatif M.A., Weintraub M., Stepensky P Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. Mol Genet Metab. 2013; 109 (2): 224-6.
54. Krivit W., Peters C., Dusenbery K., et al. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant. 2000; 26 (5): 567-70.
55. Stein J., Garty B.Z., Dror Y., Fenig E., et al. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr. 2007; 166 (7): 663-6.