Accedi

Bibliografie tematiche / Inborn errors of / Articoli di riviste

Segui questo link per vedere altri tipi di pubblicazioni sul tema: Inborn errors of.

Articoli di riviste sul tema "Inborn errors of"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 29 luglio 2024

Cita una fonte nei formati APA, MLA, Chicago, Harvard e in molti altri stili

Scegli il tipo di fonte:

Vedi i top-50 articoli di riviste per l'attività di ricerca sul tema "Inborn errors of".

Accanto a ogni fonte nell'elenco di riferimenti c'è un pulsante "Aggiungi alla bibliografia". Premilo e genereremo automaticamente la citazione bibliografica dell'opera scelta nello stile citazionale di cui hai bisogno: APA, MLA, Harvard, Chicago, Vancouver ecc.

Puoi anche scaricare il testo completo della pubblicazione scientifica nel formato .pdf e leggere online l'abstract (il sommario) dell'opera se è presente nei metadati.

Vedi gli articoli di riviste di molte aree scientifiche e compila una bibliografia corretta.

1

BURTON, BARBARA K. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (October 1, 1987): 600. http://dx.doi.org/10.1542/peds.80.4.600.

Testo completo

Abstract (sommario):

In Reply.— I thank Drs Wiswell and Weisse for their interesting observations regarding the occurrence of intracranial hemorrhage in term infants with inborn errors of metabolism. There is no question that intracranial hemorrhage is a potentially devastating, although presumably uncommon, complication of these disorders. In my personal experience, neonates with inborn errors of metabolism who have experienced intracranial hemorrhages have all had obvious predisposing factors, such as severe metabolic acidosis, which would provide a clue to the underlying diagnosis.

Gli stili APA, Harvard, Vancouver, ISO e altri

2

Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (April 1, 2009): e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

3

WISWELL, THOMAS E., and MARTIN E. WEISSE. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (October 1, 1987): 599–600. http://dx.doi.org/10.1542/peds.80.4.599.

Testo completo

Abstract (sommario):

To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases. Dr Burton is to be commended for presenting a lucid, rational approach for the diagnosis of these oft-confusing afflictions. However, there is another manifestation of these disorders, not previously recognized in the pediatric literature, that we wish to address.

Gli stili APA, Harvard, Vancouver, ISO e altri

4

Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (April 1, 2009): 131–38. http://dx.doi.org/10.1542/pir.30.4.131.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

5

Kiess, Wieland, Anna Kirstein, and Skadi Beblo. "Inborn errors of metabolism." Journal of Pediatric Endocrinology and Metabolism 33, no. 1 (January 28, 2020): 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

6

Berry, Helen K. "Inborn Errors of Metabolism." Endocrinologist 2, no. 4 (July 1992): 276–77. http://dx.doi.org/10.1097/00019616-199207000-00011.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

7

Waber, Lewis. "Inborn Errors of Metabolism." Pediatric Annals 19, no. 2 (February 1, 1990): 105–18. http://dx.doi.org/10.3928/0090-4481-19900201-08.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

8

Giugliani, Roberto, Carlos S. Dutra-Filho, Maria L. Barth, Janice C. Dutra, Moacir Wajner, Clovis M. D. Wannmacher, and Lenir T. Montagner. "Inborn Errors of Metabolism." Clinical Pediatrics 28, no. 11 (November 1989): 494–97. http://dx.doi.org/10.1177/000992288902801101.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

9

Nyhan, William L., and Deborah L. Marsden. "Inborn errors of metabolism." Current Opinion in Pediatrics 2, no. 4 (August 1990): 749–52. http://dx.doi.org/10.1097/00008480-199008000-00022.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

10

Molleston, Jean P., and David H. Perlmutter. "Inborn errors of metabolism." Current Opinion in Pediatrics 4, no. 5 (October 1992): 798–804. http://dx.doi.org/10.1097/00008480-199210000-00012.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

11

Moutsopoulos, N. M., M. S. Lionakis, and G. Hajishengallis. "Inborn Errors in Immunity." Journal of Dental Research 94, no. 6 (April 21, 2015): 753–58. http://dx.doi.org/10.1177/0022034515583533.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

12

Mitchell, G. A., S. P. Wang, L. Ashmarina, M. F. Robert, G. Bouchard, N. Laurin, S. Kassovska-Bratinova, and Y. Boukaftane. "Inborn errors of ketogenesis." Biochemical Society Transactions 26, no. 2 (May 1, 1998): 136–40. http://dx.doi.org/10.1042/bst0260136.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

13

El-Hattab, Ayman W., and V. Reid Sutton. "Inborn Errors of Metabolism." Pediatric Clinics of North America 65, no. 2 (April 2018): i. http://dx.doi.org/10.1016/s0031-3955(18)30012-9.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

14

New, Maria I. "Inborn Errors of Steroidogenesis." Steroids 63, no. 5-6 (May 1998): 238–42. http://dx.doi.org/10.1016/s0039-128x(98)00028-2.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

15

Saudubray, J. M. "Inborn errors of metabolism." Seminars in Neonatology 7, no. 1 (February 2002): 1. http://dx.doi.org/10.1053/siny.2001.0082.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

16

Sawley, Linda. "Inborn errors of metabolism." Paediatric Nursing 10, no. 5 (June 1998): 25–27. http://dx.doi.org/10.7748/paed.10.5.25.s21.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

17

El-Hattab, Ayman W. "Inborn Errors of Metabolism." Clinics in Perinatology 42, no. 2 (June 2015): 413–39. http://dx.doi.org/10.1016/j.clp.2015.02.010.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

18

Vernon, Hilary J. "Inborn Errors of Metabolism." JAMA Pediatrics 169, no. 8 (August 1, 2015): 778. http://dx.doi.org/10.1001/jamapediatrics.2015.0754.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

19

Baloh, Carolyn H., and Hey Chong. "Inborn Errors of Immunity." Medical Clinics of North America 108, no. 4 (July 2024): 703–18. http://dx.doi.org/10.1016/j.mcna.2023.08.006.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

20

Lodh, Moushumi, and Joshi Anand Kerketta. "Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby." Asian Journal of Medical Sciences 3, no. 1 (February 18, 2013): 17–20. http://dx.doi.org/10.3126/ajms.v3i1.4801.

Testo completo

Abstract (sommario):

Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of citrullinemia, glycinemia with hyperammonaemia and seizures in a 4-dayold previously asymptomatic baby, with a brief review of the literature. DOI: http://dx.doi.org/10.3126/ajms.v3i1.4801 Asian Journal of Medical Sciences 3(2012) 17-20

Gli stili APA, Harvard, Vancouver, ISO e altri

21

Mizoguchi, Yoko, and Satoshi Okada. "Inborn errors of STAT1 immunity." Current Opinion in Immunology 72 (October 2021): 59–64. http://dx.doi.org/10.1016/j.coi.2021.02.009.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

22

Almannai, Mohammed, Majid Alfadhel, and Ayman W. El-Hattab. "Carnitine Inborn Errors of Metabolism." Molecules 24, no. 18 (September 6, 2019): 3251. http://dx.doi.org/10.3390/molecules24183251.

Testo completo

Abstract (sommario):

Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis. The precursors for carnitine biosynthesis are lysine and methionine. The biosynthetic pathway involves four enzymes: 6-N-trimethyllysine dioxygenase (TMLD), 3-hydroxy-6-N-trimethyllysine aldolase (HTMLA), 4-N-trimethylaminobutyraldehyde dehydrogenase (TMABADH), and γ-butyrobetaine dioxygenase (BB

Gli stili APA, Harvard, Vancouver, ISO e altri

23

Lennard, Martin S., Geoffrey T. Tucker, and H. Frank Woods. "Inborn ???Errors??? of Drug Metabolism." Clinical Pharmacokinetics 19, no. 4 (October 1990): 257–63. http://dx.doi.org/10.2165/00003088-199019040-00001.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

24

Surtees, Robert, Philippa Mills, and Peter Clayton. "Inborn errors affecting vitamin B6metabolism." Future Neurology 1, no. 5 (September 2006): 615–20. http://dx.doi.org/10.2217/14796708.1.5.615.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

25

MacFarlane, A. W. "Inborn errors of lipid metabolism." Clinical and Experimental Dermatology 14, no. 4 (July 1989): 334. http://dx.doi.org/10.1111/j.1365-2230.1989.tb02004.x.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

26

Blau, N. "Inborn Errors of Pterin Metabolism." Annual Review of Nutrition 8, no. 1 (July 1988): 185–209. http://dx.doi.org/10.1146/annurev.nu.08.070188.001153.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

27

Van den Berghe, Georges. "Inborn Errors of Fructose Metabolism." Annual Review of Nutrition 14, no. 1 (July 1994): 41–58. http://dx.doi.org/10.1146/annurev.nu.14.070194.000353.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

28

Worwood, M. "Inborn errors of metabolism: iron." British Medical Bulletin 55, no. 3 (January 1, 1999): 556–67. http://dx.doi.org/10.1258/0007142991902628.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

29

Hommes, F. A. "Inborn errors of fructose metabolism." American Journal of Clinical Nutrition 58, no. 5 (November 1, 1993): 788S—795S. http://dx.doi.org/10.1093/ajcn/58.5.788s.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

30

Surtees, R. "Inborn errors of neurotransmitter receptors." Journal of Inherited Metabolic Disease 22, no. 4 (June 1999): 374–80. http://dx.doi.org/10.1023/a:1005591820414.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

31

New, Maria I. "Inborn errors of adrenal steroidogenesis." Molecular and Cellular Endocrinology 211, no. 1-2 (December 2003): 75–84. http://dx.doi.org/10.1016/j.mce.2003.09.013.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

32

Saudubray, Jean-Marie, and Àngels Garcia-Cazorla. "Inborn Errors of Metabolism Overview." Pediatric Clinics of North America 65, no. 2 (April 2018): 179–208. http://dx.doi.org/10.1016/j.pcl.2017.11.002.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

33

Mitsubuchi, Hiroshi, Kimitoshi Nakamura, Shiro Matsumoto, and Fumio Endo. "Inborn Errors of Proline Metabolism." Journal of Nutrition 138, no. 10 (October 1, 2008): 2016S—2020S. http://dx.doi.org/10.1093/jn/138.10.2016s.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

34

Leonard, J. V. "Teratogenic inborn errors of metabolism." Postgraduate Medical Journal 62, no. 724 (February 1, 1986): 125–29. http://dx.doi.org/10.1136/pgmj.62.724.125.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

35

Mayatepek, Ertan, Björn Hoffmann, and Thomas Meissner. "Inborn errors of carbohydrate metabolism." Best Practice & Research Clinical Gastroenterology 24, no. 5 (October 2010): 607–18. http://dx.doi.org/10.1016/j.bpg.2010.07.012.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

36

Nyhan, W. L. "Inborn errors of biotin metabolism." Archives of Dermatology 123, no. 12 (December 1, 1987): 1696–98. http://dx.doi.org/10.1001/archderm.123.12.1696.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

37

Gibson, Kenneth M., William L. Nyhan, and Jaak Jaeken. "Inborn errors of GABA metabolism." BioEssays 4, no. 1 (January 1986): 24–27. http://dx.doi.org/10.1002/bies.950040107.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

38

Batshaw, Mark L. "Inborn errors of urea synthesis." Annals of Neurology 35, no. 2 (February 1994): 133–41. http://dx.doi.org/10.1002/ana.410350204.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

39

Nyhan, William L. "Inborn Errors of Biotin Metabolism." Archives of Dermatology 123, no. 12 (December 1, 1987): 1696. http://dx.doi.org/10.1001/archderm.1987.01660360146027.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

40

Veiga‐da‐Cunha, Maria, Emile Van Schaftingen, and Guido T. Bommer. "Inborn errors of metabolite repair." Journal of Inherited Metabolic Disease 43, no. 1 (December 29, 2019): 14–24. http://dx.doi.org/10.1002/jimd.12187.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

41

Kelley, Richard I. "Inborn Errors of Cholesterol Biosynthesis." Advances in Pediatrics 47, no. 1 (2000): 1–53. http://dx.doi.org/10.1016/s0065-3101(23)00093-2.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

42

Tiri, Alessandra, Riccardo Masetti, Francesca Conti, Anna Tignanelli, Elena Turrini, Patrizia Bertolini, Susanna Esposito, and Andrea Pession. "Inborn Errors of Immunity and Cancer." Biology 10, no. 4 (April 9, 2021): 313. http://dx.doi.org/10.3390/biology10040313.

Testo completo

Abstract (sommario):

Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system. The aim of this narrative review is to discuss the epidemiology, the pathogenesis and the correct management of tumours in patients with IEI. PubMed was used to search for all of the studies published over the last 20 years using the keywords: “inborn errors of immunity” or “primary immunodeficiency” and “cancer” or “tumour” or “malignancy”. Literature analysis showed that the overall risk for cancer in children with

Gli stili APA, Harvard, Vancouver, ISO e altri

43

MP, Narayanan. "Inborn Errors of Metabolism: Indian Scenario." Acta Scientific Paediatrics 2, no. 11 (October 22, 2019): 50–52. http://dx.doi.org/10.31080/aspe.2019.02.0169.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

44

Rice, G. M., and R. D. Steiner. "Inborn Errors of Metabolism (Metabolic Disorders)." Pediatrics in Review 37, no. 1 (January 1, 2016): 3–17. http://dx.doi.org/10.1542/pir.2014-0122.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

45

Belousova, E. D. "EPILEPSY IN INBORN ERRORS OF METABOLISM." Epilepsia and paroxyzmal conditions 8, no. 1 (January 1, 2016): 55–61. http://dx.doi.org/10.17749/2077-8333.2016.8.1.055-061.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

46

Seth, Neha, Karen S. Tuano, and Javier Chinen. "Inborn errors of immunity: Recent progress." Journal of Allergy and Clinical Immunology 148, no. 6 (December 2021): 1442–50. http://dx.doi.org/10.1016/j.jaci.2021.10.010.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

47

Yamashita, Motoi, and Tomohiro Morio. "Inborn errors of IKAROS and AIOLOS." Current Opinion in Immunology 72 (October 2021): 239–48. http://dx.doi.org/10.1016/j.coi.2021.06.010.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

48

RAHMAN, SHAMIMA, EMMA J. FOOTITT, SOPHIA VARADKAR, and PETER T. CLAYTON. "Inborn errors of metabolism causing epilepsy." Developmental Medicine & Child Neurology 55, no. 1 (September 24, 2012): 23–36. http://dx.doi.org/10.1111/j.1469-8749.2012.04406.x.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

49

Casanova, Jean-Laurent, and Laurent Abel. "Inborn errors of immunity to infection." Journal of Experimental Medicine 202, no. 2 (July 18, 2005): 197–201. http://dx.doi.org/10.1084/jem.20050854.

Testo completo

Abstract (sommario):

The immune system's function is to protect against microorganisms, but infection is nonetheless the most frequent cause of death in human history. Until the last century, life expectancy was only ∼25 years. Recent increases in human life span primarily reflect the development of hygiene, vaccines, and anti-infectious drugs, rather than the adjustment of our immune system to coevolving microbes by natural selection. We argue here that most individuals retain a natural vulnerability to infectious diseases, reflecting a great diversity of inborn errors of immunity.

Gli stili APA, Harvard, Vancouver, ISO e altri

50

Fukao, Toshiyuki, and Kimitoshi Nakamura. "Advances in inborn errors of metabolism." Journal of Human Genetics 64, no. 2 (January 25, 2019): 65. http://dx.doi.org/10.1038/s10038-018-0535-7.

Testo completo

Gli stili APA, Harvard, Vancouver, ISO e altri

Offriamo sconti su tutti i piani premium per gli autori le cui opere sono incluse in raccolte letterarie tematiche. Contattaci per ottenere un codice promozionale unico!