Se connecter

Bibliographies thématiques / Metabolism, Inborn errors of / Articles de revues

Pour voir les autres types de publications sur ce sujet consultez le lien suivant : Metabolism, Inborn errors of.

Articles de revues sur le sujet « Metabolism, Inborn errors of »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 31 juillet 2024

Créez une référence correcte selon les styles APA, MLA, Chicago, Harvard et plusieurs autres

Choisissez une source :

Consultez les 50 meilleurs articles de revues pour votre recherche sur le sujet « Metabolism, Inborn errors of ».

À côté de chaque source dans la liste de références il y a un bouton « Ajouter à la bibliographie ». Cliquez sur ce bouton, et nous générerons automatiquement la référence bibliographique pour la source choisie selon votre style de citation préféré : APA, MLA, Harvard, Vancouver, Chicago, etc.

Vous pouvez aussi télécharger le texte intégral de la publication scolaire au format pdf et consulter son résumé en ligne lorsque ces informations sont inclues dans les métadonnées.

Parcourez les articles de revues sur diverses disciplines et organisez correctement votre bibliographie.

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.

Texte intégral

Résumé :

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.

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Résumé :

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.

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

11

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

12

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

13

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

14

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

15

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

16

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.

Texte intégral

Résumé :

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

Styles APA, Harvard, Vancouver, ISO, etc.

17

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

18

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

19

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

20

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

21

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

22

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

23

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

24

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

25

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

26

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

27

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

28

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

29

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

30

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.

Texte intégral

Résumé :

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

Styles APA, Harvard, Vancouver, ISO, etc.

31

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

32

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

33

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

34

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

35

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.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

36

Kwon, Jennifer M. "Testing for Inborn Errors of Metabolism." CONTINUUM: Lifelong Learning in Neurology 24, no. 1 (February 2018): 37–56. http://dx.doi.org/10.1212/con.0000000000000563.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

37

Kimonis, Virginia. "Dysmorphology of inborn errors of metabolism." Molecular Cytogenetics 7, Suppl 1 (2014): I39. http://dx.doi.org/10.1186/1755-8166-7-s1-i39.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

38

Jalan, Anil B. "Treatment of inborn errors of metabolism." Molecular Cytogenetics 7, Suppl 1 (2014): I42. http://dx.doi.org/10.1186/1755-8166-7-s1-i42.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

39

Walter, J. H. "Inborn errors of metabolism and pregnancy." Journal of Inherited Metabolic Disease 23, no. 3 (May 2000): 229–36. http://dx.doi.org/10.1023/a:1005679928521.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

40

Velázquez, Antonio, Marcela Vela-Amieva, Isabel Cicerón-Arellano, Isabel Ibarra-González, Martha Elva Pérez-Andrade, Zazil Olivares-Sandoval, and Gerardo Jiménez-Sánchez. "Diagnosis of Inborn Errors of Metabolism." Archives of Medical Research 31, no. 2 (March 2000): 145–50. http://dx.doi.org/10.1016/s0188-4409(00)00053-9.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

41

Schillaci, Lori-Anne P., Suzanne D. DeBrosse, and Shawn E. McCandless. "Inborn Errors of Metabolism with Acidosis." Pediatric Clinics of North America 65, no. 2 (April 2018): 209–30. http://dx.doi.org/10.1016/j.pcl.2017.11.003.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

42

Summar, Marshall L., and Nicholas Ah Mew. "Inborn Errors of Metabolism with Hyperammonemia." Pediatric Clinics of North America 65, no. 2 (April 2018): 231–46. http://dx.doi.org/10.1016/j.pcl.2017.11.004.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

43

Weinstein, David A., Ulrike Steuerwald, Carolina F. M. De Souza, and Terry G. J. Derks. "Inborn Errors of Metabolism with Hypoglycemia." Pediatric Clinics of North America 65, no. 2 (April 2018): 247–65. http://dx.doi.org/10.1016/j.pcl.2017.11.005.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

44

El-Gharbawy, Areeg, and Jerry Vockley. "Inborn Errors of Metabolism with Myopathy." Pediatric Clinics of North America 65, no. 2 (April 2018): 317–35. http://dx.doi.org/10.1016/j.pcl.2017.11.006.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

45

Almannai, Mohammed, and Ayman W. El-Hattab. "Inborn Errors of Metabolism with Seizures." Pediatric Clinics of North America 65, no. 2 (April 2018): 279–99. http://dx.doi.org/10.1016/j.pcl.2017.11.007.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

46

Demirbas, Didem, William J. Brucker, and Gerard T. Berry. "Inborn Errors of Metabolism with Hepatopathy." Pediatric Clinics of North America 65, no. 2 (April 2018): 337–52. http://dx.doi.org/10.1016/j.pcl.2017.11.008.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

47

Dulac, O. "Epilepsy in inborn errors of metabolism." European Journal of Paediatric Neurology 12 (May 2008): S1. http://dx.doi.org/10.1016/s1090-3798(08)70006-0.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

48

Pollitt, Rodney J., and Mark J. Sharrard. "Treating rare inborn errors of metabolism." Lancet 364, no. 9452 (December 2004): 2158–60. http://dx.doi.org/10.1016/s0140-6736(04)17606-x.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

49

Mitchell, Beverly S. "C01 Inborn errors of purine metabolism." Nutrition Clinique et Métabolisme 6, no. 4 (January 1992): 241. http://dx.doi.org/10.1016/s0985-0562(05)80376-0.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

50

Poll-Thé, B. T. "Inborn errors of metabolism and seizures." Clinical Neurology and Neurosurgery 93, no. 4 (January 1991): 348. http://dx.doi.org/10.1016/0303-8467(91)90105-x.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Nous offrons des réductions sur tous les plans premium pour les auteurs dont les œuvres sont incluses dans des sélections littéraires thématiques. Contactez-nous pour obtenir un code promo unique!