Analbuminemia reference list

1. Bennhold, H., Peters, H. & Roth, E. (1954) Uber einen Fall von kompletter Analbuminaemie ohne wesentliche klinische Krankheitszeichen. Verh.Dtsch.Ges.Inn.Med. 60, 630-634.

2. Bartter, F.C. & Waldmann, T. (1959) Idiopathic Hypoalbuminemia Clinical staff conference at the National Institutes of Health. Ann.Int.Med. 51, 553-576.

3. Beck, P.G.E. & Dorta, T. (1959) Un cas d'analbuminemie. Helv.Med.Acta 5, 764-771.

4. Shetlar, M.R., Payne, R.W., Stidworthy, G. & Mock, D. (1959) Absence of serum albumin associated with rheumatoid arthritis. Ann.Int.Med. 51, 1379-1384.

5. Mahkota, S., Dolar, P. & Pusenjak, T. (1965) Primer analbuminemije. Zdrav.Vest. 34, 95-99.

6. Montgomery, D.A.D., Neill, D.W. & Dowdie, E.B.D. (1966) Idiopathic hypoalbuminaemia. Clin.Sci. 12, 25-27.

7. Freeman, T. (1967) Analbuminemia - A study of albumin and transferrin metabolism. Wenner-Gren Ctr.Intl.Symp.Ser. 12, 75-85.

8. Arimori, S., Fujiwara, M., Yoshioka, H., Onishi, T. & Okada, K. (1970) 1st case of analbuminemia in Japan [Jpn]. Naika - Int.Med. 26, 558-560.

9. Fabiani, F. & Pauluzzi, S. (1971) Analbuminia familiare di Bennhold. Ann.Fac.Med.Chir.Univ.Perugia 62, 125-136.

10. Irunberry, J., Abbadi, M., Khati, B., Benabadji, M. & Rocha, E. (1971) Three cases of analbuminemia in a sibship [Fre]. Rev.Eur.Etudes Clin.Biol. 16, 371-379.

11. Cormode, E.J., Lyster, D.M. & Israels, S. (1975) Analbuminemia in a neonate. J.Pediatr. 86, 862-867.

12. Boman, H., Hermodson, M., Hammond, C.A. & Motulsky, A.G. (1976) Analbuminemia in an American Indian girl. Clin.Genet. 9, 513-526.

13. Goulle, J.P., Laine, G., Sauger, F., Maitrot, B., Bouillerot, A., Gray, H., Blondet, P. & Dieryck, B. (1976) Biochemical modifications in a case of analbuminemia (author's transl) [Fre]. Clin.Chim. Acta 71, 143-147.

14. Di Guardo, G., Monticelli, C., Leoni, G., Calabrese, M., Pozzoli, E., Porta, F. & Fraccaro, M. (1977) Un caso di analbuminemia. LAB,J.Res.Lab.Med. 2, 113-117.

15. Carretero, M.I., Marcet, M. & Gomez Acha, J.A. (1978) Analbuminemia congenita. Sangre 23, 876-881.

16. Dammacco, F., Miglietta, A. & Bonomo, L. (1979) Analbuminemia (a quantitative albumin variant). Ric.Clin.Lab. 9, 5-12.

17. Sagniez, M., Herbouiller, M. & Reynaud, J.P. (1982) Trois cas d'analbuminemie dans une meme famille, Etude genealogique. Nouv.Presse Med. 13, 942-942.

18. Weigand, K., Russi, E., von Schulthess, G. & Bavaud, C. (1983) Turnover of autologous alpha 1-antitrypsin in a patient with congenital analbuminemia. Klin.Wochenschr. 61, 547-552.

19. Papi, N., Castiglioni, A., & Reale, A. (1983) Su di un caso di analbuminemia congenita (Ital.). Anonymous. Anonymous. Rivista Italiana di Pediatrica 9, 85-87.

20. Platt, H.S., Barron, N., Giles, A.F., Midgley, J.E.M. & Wilkins, T.A. (1985) Thyroid-function indices in an analbuminemic subject being treated with thyroxin for hypothyroidism. Clin.Chem. 31, 341-342.

21. Berger, G.M., Stephen, C.R., Finestone, A. & Beatty, D.W. (1985) Analbuminaemia. Clinical and laboratory features in a South African patient. S.Afr.Med.J. 67, 418-422.

22. Belokrinitskaia, O.A., Sitnikova, L.A. & Aleksandrovskaia, T.N. (1985) A case of congenital analbuminemia [Rus]. Klin.Med.(Mosk.) 63, 119-121.

23. Lyon, A.W., Meinert, P., Bruce, G.A., Laxdal, V.A. & Salkie, M.L. (1998) Influence of methodology on the detection and diagnosis of congenital analbuminemia. Clin.Chem. 44, 2365-2368.

24. Monnens, L.A.H., Zwart, A., de Sain-van der Velden, M.G.M. & Joles, J.A. (2000) [A child without edema in spite of albumin deficiency]. [Dutch]. Ned.Tijdschr.Geneeskd. 144, 1742-1744.

25. Gossi, B., Kleinert, D. & Gossi, U. (2000) [A further case of analbuminemia]. Schweiz Med Wochenschr 130 (16), 583-589.

26. Kuhn-Velten, W. N., Busch, K., Reinauer, H. & Olbrisch, R. R. (2001) Progressive lipodystrophy in a patient with analbuminemia: laboratory investigation and treatment by ultrasound-assisted lipoplasty. Eur.J.Plast.Surg. 24, 197-200.

27. Burgess, L.J. & Marais, A.D. The use of simvastatin in analbuminaemia. (2001) Cardiovasc Drugs Ther. Nov;15(6), 555-558.

28. Campagnoli, M., Rossi, A., Palmqvist, L., Flisberg, A., Niklasson, A., Minchiotti, L. & Galliano, M. (2002) A novel splicing mutation.causes an undescribed type of analbuminemia. Biochim. Biophys. Acta 1586, 43-49.

29. Galliano, M., Campagnoli, M., Rossi, A., Wirsing von Konig, C.H., Lyon, A.W., Cefle, K., Yildiz, A., Palanduz, S., Ozturk, S. & Minchiotti, L. (2002) Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin.Chem. 6 (pt1), 844-849.

30. Newstead, J., Card, S.E. & Lyon, A.W. (2004) Low serum albumin and abnormal body shape in a young Canadian First Nations woman. Laboratory Medicine 35, 354-356.

31. Koot, B. G., Houwen, R., Pot, D. J. & Nauta, J. (2004) Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. Eur J Pediatr 163 (11), 664-670.

32. Campagnoli, M., Sala, A., Romano, A., Rossi, A., Nauta, J., Koot, B.G., Minchiotti, L. & Galliano, M. (2005) A novel non-sense mutation causes analbuminemia in a Moroccan family. Clin. Chem. 51, 227-229.

33. Campagnoli, M., Rosipal, S., Debreová, M., Rosipal, R., Sala, A., Romano, A., Labò, S., Galliano, M. & Minchiotti, L.(2006) Analbuminemia in a Slovak Romany Igypsy) family: Case report and mutational analysis. Clin.Chim.Acta. 365, 188-193.

34. Peters, T. Jr., Holowachuk, E.W., McIncrow, R., Campagnoli, M. & Galliano, M. (2006) Albumin locust valley: a new case of analbuminemia. Clin Biochem. Sep;39(9), 904-906.

35. Dolcini, L., Caridi, G., Dagnino, M., Sala ,A., Gokce, S., Sokucu, S., Campagnoli, M., Galliano, M. & Minchiotti, L. (2007) Analbuminemia produced by a novel splicing mutation. Clin.Chem. 53 (8), 1549-1552.

36. Campagnoli, M., Hansson, P., Dolcini, L., Caridi, G., Dagnino, M., Candiano, G., Bruschi, M., Palmqvist, L., Galliano, M. & Minchiotti, L. (2008) Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT). Clin.Chim.Acta .Oct;396(1-2), 89-92.

37. Caridi, G., Dagnino, M., Dalgic, B., Egritas, O., Sancak, B., Campagnoli, M., Dolcini, L., Galliano, M. & Minchiotti, L. (2008) Analbuminemia Zonguldak: case report and mutational analysis. Clin.Biochem. Mar;41(4-5), 288-291.

38. Becker-Cohen, R., Belostotsky, R., Ben-Shalom, E., Feinstein, S., Rinat, C. & Frishberg, Y. (2009) Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge. Pediatr. Nephrol. 24 (2), 403-406.

39. Caridi, G., Kacem, M., Campagnoli, M., Dagnino, M., Debbabi, W., Kochtali, I., Neffati, F., Galliano, M. & Minchiotti, L. (2009) A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy. Clin.Chem.Lab.Med. 47(10), 1311-1313.

40. Dagnino, M., Caridi, G., Marsciani, M., Bettocchi, I., Tassinari, D., Bernardi, F., Chiodo, F., Campagnoli. M., Galliano, M. & Minchiotti, L. (2010) A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient. Eur.J.Clin.Invest. Mar;40(3), 281-284.

41. Dagnino, M., Caridi, G., Aydin, Z., Ozturk, S., Karaali, Z., Kazancioglu, R., Cefle, K., Gursu, M., Campagnoli, M., Galliano, M. & Minchiotti, L. (2010) A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. Clin.Chim.Acta. Nov 11;411(21-22), 1711-1715.

42. Dagnino, M., Caridi, G., Haenni, U., Duss, A., Aregger, F., Campagnoli, M., Galliano, M. & Minchiotti, L. (2011) Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. Int.J.Mol.Sci.;12(11), 7314-7322.

43. Caridi, G., Dagnino, M., Di Duca, M., Pinto, H., Espinheira Mdo, C., Guerra, A., Fernandes, S., Campagnoli, M., Galliano, M. & Minchiotti L. (2012) A novel splicing mutation causes analbuminemia in a Portuguese boy. Mol.Genet.Metab. Mar;105(3), 479-483.

44. Caridi, G., Dagnino, M., Di Duca, M., Akyuz, F., Boztas, G., Besisik, F., Demir, K., Ormeci, A., Gokturk, S., Cefle, K., Ozturk, Ş., Palanduz, S., Campagnoli, M., Galliano, M. & Minchiotti, L. (2012) A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man. Clin.Chim.Acta. May 18;413(9-10), 950-951.

45. Bibi, A., Jouini, L., Sahli, C. A., Hadj Fredj, S., Abidi, K., Gharsallah, L., Mathlouthi, S., Ouali, F., Siala, H., Belhaj, R., Sammoud, A. & Messaoud, T. (2012) Detection of a novel splicing mutation causing analbuminemia in a Libyan family. Clin.Biochem. Oct;45(15), 1183-1186.

46. Caridi, G., Dagnino, M., Di Duca, M., Santra, S., Ball, S., Sulaiman, R.A., Campagnoli, M., Galliano, M. & Minchiotti, L. (2012) A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. Clin.Chem.Lab.Med. Dec;50(12), 2221-2223.

47. Schmeller, W. & Hartwig, D. (2012) Analbuminaemia in Combination with Lipoedema in Two Siblings. Akt.Dermatol. 38, 177–182.

48. Caridi, G., Dagnino, M., Lugani, F., Shalev, S. A., Campagnoli, M., Galliano, M., Spiegel, R. & Minchiotti, L. (2013) A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. Eur.J.Clin.Invest. Jan;43(1), 72-78.

49. Caridi, G., Dagnino, M., Erdeve, O., Di Duca, M., Yildiz, D., Alan, S., Atasay, B., Arsan, S., Campagnoli, M., Galliano, M. & Minchiotti, L. (2014) Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. Biochem. Med. (Zagreb). Feb 15;24(1), 151-158.

50. Berglund, L.J., van der Poorten, D.K., Caridi, G., Campagnoli, M. & Minchiotti, L. (2015) Congenital analbuminaemia diagnosed in adulthood in an Australian family. Pathology. Aug; 47(5), 492-494.

51. Caridi, G., Thomas, W., Campagnoli, M., Lugani, F., Galliano, M. & Minchiotti, L. (2016) A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant. Ann. Clin. Biochem. In press.

52. Caridi, G., Yilmaz Gulec, E., Campagnoli, M., Lugani, F., Onal, H., Kilic, D., Galliano, M. & Minchiotti, L. . (2016) A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. Biochem. Med. (Zagreb). In press.

53. Kallee E. (1996) Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992).  J.Lab.Clin. Med. May;127(5), 470-480.

54. Del Ben, M., Angelico, F., Loffredo, L. & Violi, F. (2013) Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. World J.Clin.Cases. Apr 16;1(1), 44-48.

55. Neuhaus, T. J., Stallmach, T. & Genewein, A. (2008) A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature. Eur.J.Pediatr. Sep;167(9), 1073-1077.