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Items: 1 to 20 of 717

1.

Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient.

Ozen S, Demir S.

Paediatr Drugs. 2017 Aug;19(4):303-311. doi: 10.1007/s40272-017-0232-6. Review.

PMID:
28497352
2.

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Wanders RJ, Klouwer FC, Ferdinandusse S, Waterham HR, Poll-Thé BT.

Methods Mol Biol. 2017;1595:329-342. doi: 10.1007/978-1-4939-6937-1_30. Review.

PMID:
28409475
3.

Monogenic Auto-inflammatory Syndromes: A Review of the Literature.

Azizi G, Khadem Azarian S, Nazeri S, Mosayebian A, Ghiasy S, Sadri G, Mohebi A, Khan Nazer NH, Afraei S, Mirshafiey A.

Iran J Allergy Asthma Immunol. 2016 Dec;15(6):430-444. Review.

4.

Phytanic acid consumption and human health, risks, benefits and future trends: A review.

Roca-Saavedra P, Mariño-Lorenzo P, Miranda JM, Porto-Arias JJ, Lamas A, Vazquez BI, Franco CM, Cepeda A.

Food Chem. 2017 Apr 15;221:237-247. doi: 10.1016/j.foodchem.2016.10.074. Epub 2016 Oct 18. Review.

PMID:
27979198
5.

Peroxisome biogenesis and human peroxisome-deficiency disorders.

Fujiki Y.

Proc Jpn Acad Ser B Phys Biol Sci. 2016;92(10):463-477. Review.

6.

Lessons from characterization and treatment of the autoinflammatory syndromes.

Aksentijevich I, McDermott MF.

Curr Opin Rheumatol. 2017 Mar;29(2):187-194. doi: 10.1097/BOR.0000000000000362. Review.

PMID:
27906774
7.

The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome.

van der Meer JW, Simon A.

Rheumatology (Oxford). 2016 Dec;55(suppl 2):ii23-ii29. Review.

PMID:
27856657
8.
9.

Regulation of Oligodendrocyte Differentiation and Myelination by Nuclear Receptors: Role in Neurodegenerative Disorders.

Sandoval-Hernández A, Contreras MJ, Jaramillo J, Arboleda G.

Adv Exp Med Biol. 2016;949:287-310. Review.

PMID:
27714695
10.

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.

Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M.

Nat Rev Endocrinol. 2016 Oct;12(10):606-15. doi: 10.1038/nrendo.2016.90. Epub 2016 Jun 17. Review.

PMID:
27312864
11.

Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives.

Boelens JJ, van Hasselt PM.

Neuropediatrics. 2016 Oct;47(5):285-92. doi: 10.1055/s-0036-1584602. Epub 2016 Jun 16. Review.

PMID:
27308871
12.

Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.

Cattalini M, Soliani M, Lopalco G, Rigante D, Cantarini L.

Intern Emerg Med. 2016 Sep;11(6):781-91. doi: 10.1007/s11739-016-1466-y. Epub 2016 May 25. Review.

PMID:
27221072
13.

Natural history of mevalonate kinase deficiency: a literature review.

Zhang S.

Pediatr Rheumatol Online J. 2016 May 4;14(1):30. doi: 10.1186/s12969-016-0091-7. Review.

14.

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Klouwer FC, Huffnagel IC, Ferdinandusse S, Waterham HR, Wanders RJ, Engelen M, Poll-The BT.

Neuropediatrics. 2016 Aug;47(4):205-20. doi: 10.1055/s-0036-1582140. Epub 2016 Apr 18. Review.

PMID:
27089543
15.

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.

Peciuliene S, Burnyte B, Gudaitiene R, Rusoniene S, Drazdiene N, Liubsys A, Utkus A.

Pediatr Rheumatol Online J. 2016 Mar 25;14(1):19. doi: 10.1186/s12969-016-0081-9. Review.

16.

Inherited ichthyosis: Syndromic forms.

Yoneda K.

J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. Review.

PMID:
26945533
17.

Ocular manifestations of genetic skin disorders.

Jen M, Nallasamy S.

Clin Dermatol. 2016 Mar-Apr;34(2):242-75. doi: 10.1016/j.clindermatol.2015.11.008. Epub 2015 Dec 2. Review.

PMID:
26903188
18.

[Hereditary peroxisomal diseases].

Astudillo L, Sabourdy F, Touati G, Levade T.

Presse Med. 2016 Mar;45(3):302-12. doi: 10.1016/j.lpm.2015.05.009. Epub 2016 Feb 18. Review. French.

PMID:
26899150
19.

Hopes, Promises, and Future Directions of Gene and Cell Therapies in France.

Cartier N, Cordelier P.

Hum Gene Ther. 2016 Feb;27(2):96-7. doi: 10.1089/hum.2016.29020.nca. Review. No abstract available.

PMID:
26886830
20.

Nuclear Receptor Modulation for the Treatment of Nonalcoholic Fatty Liver Disease.

Fuchs CD, Traussnigg SA, Trauner M.

Semin Liver Dis. 2016 Feb;36(1):69-86. doi: 10.1055/s-0036-1571296. Epub 2016 Feb 12. Review.

PMID:
26870934

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