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Items: 1 to 20 of 154

1.

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network.

Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17.

2.

Hereditary urea cycle diseases in Finland.

Keskinen P, Siitonen A, Salo M.

Acta Paediatr. 2008 Oct;97(10):1412-9. doi: 10.1111/j.1651-2227.2008.00923.x. Epub 2008 Jul 9.

PMID:
18616627
3.

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

Summar ML, Dobbelaere D, Brusilow S, Lee B.

Acta Paediatr. 2008 Oct;97(10):1420-5. doi: 10.1111/j.1651-2227.2008.00952.x. Epub 2008 Jul 17.

4.

Liver transplantation in urea cycle disorders.

Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y.

Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9.

PMID:
10603100
5.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6. Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles].

PMID:
25875215
6.
7.

Dietary management of urea cycle disorders: European practice.

Adam S, Almeida MF, Assoun M, Baruteau J, Bernabei SM, Bigot S, Champion H, Daly A, Dassy M, Dawson S, Dixon M, Dokoupil K, Dubois S, Dunlop C, Evans S, Eyskens F, Faria A, Favre E, Ferguson C, Goncalves C, Gribben J, Heddrich-Ellerbrok M, Jankowski C, Janssen-Regelink R, Jouault C, Laguerre C, Le Verge S, Link R, Lowry S, Luyten K, Macdonald A, Maritz C, McDowell S, Meyer U, Micciche A, Robert M, Robertson LV, Rocha JC, Rohde C, Saruggia I, Sjoqvist E, Stafford J, Terry A, Thom R, Vande Kerckhove K, van Rijn M, van Teeffelen-Heithoff A, Wegberg Av, van Wyk K, Vasconcelos C, Vestergaard H, Webster D, White FJ, Wildgoose J, Zweers H.

Mol Genet Metab. 2013 Dec;110(4):439-45. doi: 10.1016/j.ymgme.2013.09.003. Epub 2013 Sep 12.

PMID:
24113687
8.

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.

Scaglia F, Carter S, O'Brien WE, Lee B.

Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85.

PMID:
15050979
9.

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C.

Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4.

10.

Urea cycle disorders in Thai infants: a report of 5 cases.

Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.

J Med Assoc Thai. 2002 Aug;85 Suppl 2:S720-31.

PMID:
12403252
11.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A.

J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1157-8. Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles].

PMID:
25875216
12.

Urea cycle disorders: clinical presentation outside the newborn period.

Smith W, Kishnani PS, Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith M, Summar M.

Crit Care Clin. 2005 Oct;21(4 Suppl):S9-17. Review.

PMID:
16227115
13.

Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan.

Uchino T, Endo F, Matsuda I.

J Inherit Metab Dis. 1998;21 Suppl 1:151-9.

PMID:
9686352
14.
15.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J.

J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19.

16.

[Disorders of the urea cycle].

Matsumura R.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):390-2. Review. Japanese. No abstract available.

PMID:
11031978
17.

Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients.

Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B.

Am J Clin Nutr. 2011 Jun;93(6):1248-54. doi: 10.3945/ajcn.110.009043. Epub 2011 Apr 13.

18.

Histopathological findings in livers of patients with urea cycle disorders.

Yaplito-Lee J, Chow CW, Boneh A.

Mol Genet Metab. 2013 Mar;108(3):161-5. doi: 10.1016/j.ymgme.2013.01.006. Epub 2013 Jan 23.

PMID:
23403242
19.

Dietary management of urea cycle disorders: UK practice.

Adam S, Champion H, Daly A, Dawson S, Dixon M, Dunlop C, Eardley J, Evans S, Ferguson C, Jankowski C, Lowry S, MacDonald A, Maritz C, Micciche A, Robertson L, Stafford J, Terry A, Thom R, van Wyk K, Webster D, White FJ, Wildgoose J; British Inherited Metabolic Diseases Group (BIMDG) Dietitian’s Group.

J Hum Nutr Diet. 2012 Aug;25(4):398-404. doi: 10.1111/j.1365-277X.2012.01259.x. Epub 2012 May 18.

PMID:
22594780
20.

A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.

Talbot HW, Sumlin AB, Naylor EW, Guthrie R.

Pediatrics. 1982 Oct;70(4):526-31.

PMID:
7122151

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