1. Suchy F.J. Neonatal Cholestasis//Pediatr Rev. 2004. Т. 25, N 11. С. 388 - 396.
2. Дегтярева А.В., Мухина Ю.Г., Володин Н.Н. Дифференциальная диагностика и лечение синдрома холестаза у новорожденных детей//Вопросы практической педиатрии. 2007. Т. 2, N 1. С. 55 - 63.
3. Lorenzo D'Antiga. Pediatric Hepatology and Liver Transplantation/под ред. D'Antiga L. Cham: Springer International Publishing, 2019. 829 с.
4. Feldman A.G., Sokol R.J. Neonatal cholestasis//Neoreviews. American Academy of Pediatrics, 2013. Т. 14, N 2. С. 21.
5. Ghoda M.K. Clinical Casebook Neonatal and Pediatric Liver and Metabolic Diseases. 2021. 278 с.
6. D'antiga L. Pediatric hepatology and liver transplantation//Pediatric Hepatology and Liver Transplantation. Springer International Publishing, 2019. 1 - 829 с.
7. Клинические рекомендации "Нарушения обмена галактозы (Галактоземия)" (возрастная категория взрослые, дети), 2024.
8. Клинические рекомендации "Наследственная тирозинемия I типа" (возрастная категория взрослые, дети), 2024.
9. Клинические рекомендации "Болезнь Ниманна-Пика тип C" (возрастная категория взрослые, дети), 2024.
10. Клинические рекомендации "Кистозный фиброз (муковисцидоз)" (возрастная категория взрослые, дети), 2021.
11. Клинические рекомендации "Врожденный гипотиреоз у детей", 2024.
12. Venigalla S., Gourley G.R. Neonatal cholestasis//Seminars in Perinatology. 2004. Т. 28, N 5. С. 348 - 355.
13. Abbey P., Kandasamy D., Naranje P. Neonatal Jaundice//The Indian Journal of Pediatrics. 2019. Т. 86, N 9. С. 830 - 841.
14. Fischler B., Papadogiannakis N., Nemeth A. Aetiological factors in neonatal cholestasis//Acta Paediatr. 2007. Т. 90, N 1.
15. Nio M. Introduction to Biliary Atresia//Introduction to Biliary Atresia. Springer Nature, 2021. 1 - 350 с.
16. Дегтярева А.В. и др. Билиарная атрезия. Диагностика и лечение. Москва: Прима Принт, 2019. Т. 76.
17. Клинические рекомендации "Врожденная цитомегаловирусная инфекция", 2023. 62 с.
18. Spinner N.B., Leonard L.D., Krantz I.D.. Alagille syndrome/под ред. Pagon RA A.M.A.H.W.S.A.A.B.L.B.T.L.N.M.H.S.R.S.K. Seattle: University of Washington, 1993.
19. Pan Q. и др. A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis//EMBO Mol Med. 2021. Т. 13, N 11.
20. Luan W. и др. Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis//J Med Genet. BMJ Publishing Group, 2021. Т. 58, N 8. С. 514 - 525.
21. Amendola M. и др. Pediatric Genetic Cholestatic Liver Disease Overview. 2022. 1993 - 2024 с.
22. Zhang J. и др. Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization//Liver International. 2020. Т. 40, N 5. С. 1142 - 1150.
23. Li Q., Sun Y., Van Ijzendoorn S.C.D. biology A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators. 2021.
24. Amirneni S. и др. Molecular overview of progressive familial intrahepatic cholestasis//World J Gastroenterol. 2020. Т. 26, N 47. С. 7470 - 7484.
25. Goldberg A., Mack C.L. Inherited Cholestatic Diseases in the Era of Personalized Medicine//Clinical Liver Disease. John Wiley and Sons Inc, 2020. Т. 15, N 3. С. 105 - 109.
26. Baker A. и др. Systematic review of progressive familial intrahepatic cholestasis//Clin Res Hepatol Gastroenterol. 2019. Т. 43, N 1. С. 20 - 36.
27. Davit-Spraul A. и др. Progressive familial intrahepatic cholestasis//Orphanet J Rare Dis. 2009. Т. 4, N 1. С. 25 - 36.
28. Bilal H. и др. Neonatal Cholestasis: The Changing Etiological Spectrum in Pakistani Children//Cureus. 2022.
29. Shneider B.L. и др. Initial assessment of the infant with neonatal cholestasis-Is this biliary atresia?//PLoS One. 2017. Т. 12, N 5. С. e0176275.
30. Kowalski A. и др. Choledochal Cyst Excision in Infants-A Retrospective Study//Children. Multidisciplinary Digital Publishing Institute (MDPI), 2023. Т. 10, N 2.
31. Turnpenny P.D., Ellard S. Alagille syndrome: pathogenesis, diagnosis and management//European Journal of Human Genetics. 2012. Т. 20, N 3.
32. Garcia M.A. и др. Alagille Syndrome: Cutaneous Manifestations in 38 Children//Pediatr Dermatol. 2005. Т. 22, N 1.
33. Kamath B.M., Spinner N.B., Rosenblum N.D. Renal involvement and the role of Notch signalling in Alagille syndrome//Nat Rev Nephrol. 2013. Т. 9, N 7. С. 409 - 418.
34. Semenova N. и др. Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease//Int J Mol Sci. Multidisciplinary Digital Publishing Institute (MDPI), 2023. Т. 24, N 14.
35. Ipatova M.G. и др. A complex case of progressive familial intrahepatic cholestasis type 2 diagnostics//Pediatria. Journal named after G.N. Speransky. 2017. Т. 96, N 6.
36. Fawaz R. и др. Guideline for the Evaluation of Cholestatic Jaundice in Infants//J Pediatr Gastroenterol Nutr. 2017. Т. 64, N 1. С. 154 - 168.
37. Ranucci G. и др. Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group//Digestive and Liver Disease. 2022. Т. 54, N 1. С. 40 - 53.
38. Мухина Ю.Г., Дегтярева А.В. Синдром холестаза у детей первых месяцев жизни. Часть 1//Доктор.Ру. 2010. С. 22 - 27.
39. De Bruyne R. et al. Clinical practice: neonatal cholestasis//European journal of pediatrics. - 2011. - Т. 170. - С. 279 - 284.
40. Raquel B Pinto et al. Cholestatic Jaundice with Hypoglycemia as a Manifestation of Congenital Endocrine Disorders: A Case Series//Arch Pediatr. 2022. Т. 7, N 1.
41. Petrescu A.D. и др. Hypothalamus-Pituitary-Adrenal Dysfunction in Cholestatic Liver Disease//Front Endocrinol (Lausanne). 2018. Т. 9. С. 660.
42. Chan U. и др. Cholestasis caused by panhypopituitarism and acquired cytomegalovirus infection in a 2-month-old male infant//Medicine. 2017. Т. 96, N 17. С. e6757.
43. El Qadiry R. и др. Neonatal Cholestasis: A Rare and Unusual Presentation of Pituitary Stalk Interruption Syndrome//Case Rep Endocrinol. 2021. Т. 2021. С. 1 - 3.
44. А.В. Болмасова и др. Трудности диагностики врожденного гипопитуитаризма в неонатальном периоде//Неонатология: новости, мнения, обучение. 2017. Т. 2, N 16. С. 81 - 90.
45. Souder J.P. и др. Congenital Cytomegalovirus and Hepatic Failure//Pediatric Infectious Disease Journal. 2022. Т. 41, N 2. С. e49 - e53.
46. Teng J. и др. High Rate of Cytomegalovirus Detection in Cholestatic Preterm Infants//Front Pediatr. 2021. Т. 9.
47. Zhao D. и др. Effects of cytomegalovirus infection on the differential diagnosis between biliary atresia and intrahepatic cholestasis in a Chinese large cohort study//Ann Hepatol. 2021. Т. 23. С. 100286.
48. Boyer S.G., Boyer K.M. Update on TORCH infections in the newborn infant//Newborn and Infant Nursing Reviews. 2004. Т. 4, N 1. С. 70 - 80.
49. Tian C., Ali S.A., Weitkamp J.-H. Congenital Infections, Part I: Cytomegalovirus, Toxoplasma, Rubella, and Herpes Simplex//Neoreviews. 2010. Т. 11, N 8. С. e436 - e446.
50. Shigetomi H. и др. Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry//Int J Neonatal Screen. 2018. Т. 4, N 1. С. 5.
51. Mushtaq I. и др. Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry Commentary: What is tandem mass spectrometry?//BMJ. 1999. Т. 319, N 7208. С. 471 - 477.
52. Zhang H. и др. Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population//Front Genet. 2022. Т. 13.
53. Kido J. и др. Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening//J Inherit Metab Dis. 2023.
54. Nittono H. и др. Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis//Front Pediatr. Frontiers Media SA, 2024. Т. 12.
55. Xiao G. и др. 206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China//Front Genet. Frontiers Media SA, 2024. Т. 15.
56. Wang D. и др. Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017 - 2022//Front Genet. Frontiers Media SA, 2024. Т. 15.
57. Niemi A.-K. Neonatal Presentations of Metabolic Disorders Practice Gaps//Neoreviews. 2021. С. 649 - 662.
58. Quelhas P. и др. Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal//Healthcare (Switzerland). MDPI, 2022. Т. 10, N 10.
59. Xie S. и др. Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis//Frontiers in Pharmacology. Frontiers Media SA, 2023. Т. 14.
60. Hahn J.W. и др. Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia//J Gastroenterol Hepatol. 2024. Т. 39, N 5. С. 964 - 974.
61. Verkade H.J. и др. EASL Clinical Practice Guidelines on genetic cholestatic liver diseases//J Hepatol. Elsevier BV, 2024.
62. Kirchberg I. и др. Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome//Front Pediatr. Frontiers Media SA, 2024. Т. 12.
63. Колчина А.Н. и др. Диагностика наследственных болезней обмена веществ у новорожденных с синдромом гипераммониемии в дебюте заболевания (пилотное исследование)//Современные технологии в медицине. Privolzhsky Research Medical University, 2021. Т. 13, N 1. С. 59 - 65.
64. Соколова Е.В. и др. Клиническое наблюдение ребенка c гипераммониемией, ассоциированной с приемом препарата вальпроевой кислоты//Неонатология: Новости. Мнения. Обучение. Geotar Media Publishing Group, 2023. Т. 11, N 4. С. 36 - 43.
65. Дегтярева А.В. и др. Гипераммониемия в практике неонатолога.//Российский вестник перинатологии и педиатрии. National Academy of Pediatric Science and Innovation, 2020. Т. 65, N 6. С. 98 - 107.
66. Savy N. и др. Acute pediatric hyperammonemia: current diagnosis and management strategies//Hepat Med. Dove Medical Press Ltd., 2018. Т. Volume 10. С. 105 - 115.
67. Napolitano M. и др. Practical approach to imaging diagnosis of biliary atresia, Part 1: prenatal ultrasound and magnetic resonance imaging, and postnatal ultrasound//Pediatr Radiol. 2021. Т. 51, N 2. С. 314 - 331.
68. Berauer J. и др. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome//Hepatology. 2019. Т. 70, N 3. С. 899 - 910.
69. Gupta V. и др. Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney//BMJ Case Rep. 2018. С. bcr-2017-223715.
70. Teker
и др. Two Cases With Neonatal Cholestasis and Renal Disorders Due to DCDC2 Mutation//Experimental and Clinical Transplantation. 2022. Т. 20, N Suppl 3. С. 115 - 117.
71. Пыков М.И. и др. Ультразвуковая диагностика изменений почек у детей с синдромом Алажилля.//Medical Council. Remedium, Ltd., 2017. N 9. С. 148 - 153.
72. Fattouh A.M. и др. The prevalence of congenital heart defects in infants with cholestatic disorders of infancy: a single-centre study//Arch Dis Child. 2016. Т. 101, N 9.
73. Волынец Г.В. и др. Дифференциальная диагностика и принципы терапии врожденных холестатических болезней у детей раннего возраста. 2018. 83 с.
74. Chitayat D., Kamath B., Saleh M. Alagille syndrome: clinical perspectives//Appl Clin Genet. 2016. Т. Volume 9.
75. Elisofon S.A. и др. Society of pediatric liver transplantation: Current registry status 2011 - 2018//Pediatr Transplant. 2020. Т. 24, N 1.
76. Liu Y. и др. Liver Transplantation for Progressive Familial Intrahepatic Cholestasis//Ann Transplant. 2018. Т. 23.
77. Jeyaraj R. и др. The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges//Genes (Basel). 2021. Т. 12, N 11. С. 1837.
78. Sokol R.J. Fat-soluble vitamins and their importance in patients with cholestatic liver diseases//Gastroenterol Clin North Am.. 1994. Т. 23, N 4. С. 673 - 705.
79. Argao E.A., Heubi J.E. Fat-soluble vitamin deficiency in infants and children//Curr Opin Pediatr. 1993. Т. 5, N 5.
80. Shen Y.-M. и др. Oral Absorbable Fat-soluble Vitamin Formulation in Pediatric Patients With Cholestasis//J Pediatr Gastroenterol Nutr. 2012. Т. 55, N 5.
81. Feranchak A.P. и др. Comparison of indices of vitamin A status in children with chronic liver disease//Hepatology. 2005. Т. 42, N 4.
82. Feranchak A.P., Sokol R.J. Medical and Nutritional Management of Cholestasis in Infants and Children//Liver Disease in Children. Cambridge University Press, 2007.
83. Rovner A.J. и др. Rethinking Growth Failure in Alagille Syndrome: The Role of Dietary Intake and Steatorrhea//J Pediatr Gastroenterol Nutr. 2002. Т. 35, N 4.
84. Huang L. и др. Efficacy and safety of ursodeoxycholic acid in children with cholestasis: A systematic review and meta-analysis//PLoS One. 2023. Т. 18, N 1.
85. Moisseiev E., Cohen S., Dotan G. Alagille Syndrome Associated with Xerophthalmia//Case Rep Ophthalmol. 2013. Т. 4, N 3.
86. Bhatia V. и др. Management of neonatal cholestasis: Consensus statement of the pediatric gastroenterology chapter of Indian academy of pediatrics//Indian Pediatr. 2014. Т. 51, N 3. С. 203 - 210.
87. Hossain Z. и др. Effects of total enteral nutrition on early growth, immunity, and neuronal development of preterm infants//Nutrients. MDPI, 2021. Т. 13, N 8.
88. Tessitore M. и др. Malnutrition in pediatric chronic cholestatic disease: An up-to-date overview//Nutrients. MDPI, 2021. Т. 13, N 8.
89. Degrassi I. и др. Fat-Soluble Vitamins Deficiency in Pediatric Cholestasis: A Scoping Review//Nutrients. Multidisciplinary Digital Publishing Institute (MDPI), 2023. Т. 15, N 11.
90. Shneider B.L. и др. Efficacy of fat-soluble vitamin supplementation in infants with biliary atresia//Pediatrics. 2012. Т. 130, N 3.
91. Heinz N., Vittorio J. Treatment of Cholestasis in Infants and Young Children//Current Gastroenterology Reports. Springer, 2023. Т. 25, N 11. С. 344 - 354.
92. Dani C. и др. Italian guidelines for the management and treatment of neonatal cholestasis//Italian Journal of Pediatrics. BioMed Central Ltd., 2015. Т. 41, N 1.
93. Catzola A., Vajro P. Management options for cholestatic liver disease in children//Expert Review of Gastroenterology and Hepatology. Taylor and Francis Ltd, 2017. Т. 11, N 11. С. 1019 - 1030.
94. Chen R. и др. Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures//Orphanet J Rare Dis. 2022. Т. 17, N 1.
95. Ткаченко А.К. и др. Желтухи Неонатального Периода. Минск, 2017. Т. 68.
96. Rabbani T., Guthery S.L., Himes R., Shneider B.L., Harpavat S.. Newborn Screening for Biliary Atresia: a Review of Current Methods//Curr Gastroenterol Rep. 2021; 23(12): 28.
97. Rabbani T., Shah J. Newborn screening for biliary atresia using direct bilirubin: An implementation science study//J Med Screen. 2025; 32(2): 61 - 66.
98. Н.Л. Аряев, Н.В. Котова Неонатальные гепатиты Журнал ЗТД Журнал ЗТД N 2 (38) 2013
99. Синдром желтухи у детей, критерии потенциальной опасности: учеб. пособие/Л.А. Мусатова, Л.И. Краснова, Н.С. Карташева [и др.]. - Пенза: Изд-во ПГУ, 2022. - 88 с.
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