PMC Links for Books (Select 1497458) - PMC

Select item 54711621.

Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature

David Carpentieri, Margaret F. Barnhart, Kyrieckos Aleck, Tamir Miloh, Daphne deMello

Mol Genet Metab Rep. 2015 Mar; 2: 47–50. Published online 2015 Jan 10. doi: 10.1016/j.ymgmr.2014.12.005

PMCID:: PMC5471162

Abstract Article PDF–618K

Select item 52172052.

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier, Coraline Grisel, Célina Roda, Graziella Pinto, Despina Moshous, Fahd Ghalim, Pauline Krug, Nelly Deltour, Clément Pontoizeau, Sandrine Dubois, Murielle Assoun, Louise Galmiche, Jean-Paul Bonnefont, Chris Ottolenghi, Jacques de Blic, Jean-Baptiste Arnoux, Pascale de Lonlay

Orphanet J Rare Dis. 2017; 12: 3. Published online 2017 Jan 5. doi: 10.1186/s13023-016-0550-8

PMCID:: PMC5217205

Abstract Article PDF–727K

Select item 50592173.

Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance

C. Nicolas, N. Bednarek, V. Vuiblet, O. Boyer, A. Brassier, P. De Lonlay, L. Galmiche, P. Krug, V. Baudouin, S. Pichard, M. Schiff, C. Pietrement

JIMD Rep. 2016; 29: 11–17. Published online 2015 Nov 26. doi: 10.1007/8904_2015_509

PMCID:: PMC5059217

Abstract Article PDF–623K

Select item 50591864.

Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI

Mari Kärki, Kirsti Näntö-Salonen, Harri Niinikoski, Laura M. Tanner

JIMD Rep. 2016; 25: 47–55. Published online 2015 Jun 30. doi: 10.1007/8904_2015_465

PMCID:: PMC5059186

Abstract Article PDF–162K

Select item 48312095.

New Insights in Nutritional Management and Amino Acid Supplementation in Urea Cycle Disorders

Fernando Scaglia

Mol Genet Metab. Author manuscript; available in PMC 2016 Apr 14.

Published in final edited form as: Mol Genet Metab. 2010; 100(Suppl 1): S72–S76. Published online 2010 Mar 1. doi: 10.1016/j.ymgme.2010.02.019

PMCID:: PMC4831209

Abstract Article PDF–109K

Select item 35098166.

Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance

Harri Niinikoski, Risto Lapatto, Matti Nuutinen, Laura Tanner, Olli Simell, Kirsti Näntö-Salonen

JIMD Rep. 2011; 1: 43–47. Published online 2011 Jun 22. doi: 10.1007/8904_2011_15

PMCID:: PMC3509816

Abstract Article PDF–261K

Select item 35098147.

First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance

Nadia Esseghir, Chiraz Souissi Bouchlaka, Sondess Hadj Fredj, Amel Ben Chehida, Hatem Azzouz, Monique Fontaine, Neji Tebib, Marie Françoise Ben Dridi, Gilbert Briand, Taieb Messaoud, Amel Ben Ammar Elgaaied, Naziha Kaabachi

JIMD Rep. 2011; 1: 37–38. Published online 2011 Jun 22. doi: 10.1007/8904_2011_13

PMCID:: PMC3509814

Abstract Article PDF–111K

Select item 29996098.

In Lysinuric Protein Intolerance system y⁺L activity is defective in monocytes and in GM-CSF-differentiated macrophages

Amelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C Gazzola, Zamir Kadija, Giuseppe Rodi, Francesca Mariani, Maria Lorena Ruzza, Maurizio Luisetti, Valeria Dall'Asta

Orphanet J Rare Dis. 2010; 5: 32. Published online 2010 Nov 26. doi: 10.1186/1750-1172-5-32

PMCID:: PMC2999609

Abstract Article PDF–1.4M

Select item 29859569.

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

Mariona Font-Llitjós, Benjamín Rodríguez-Santiago, Meritxell Espino, Ruth Sillué, Sandra Mañas, Laia Gómez, Luis A Pérez-Jurado, Manuel Palacín, Virginia Nunes

Eur J Hum Genet. 2009 Jan; 17(1): 71–79. Published online 2008 Aug 20. doi: 10.1038/ejhg.2008.145

PMCID:: PMC2985956

Abstract Article PDF–462K

Select item 280742410.

SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance

David N Douda, Nicole Farmakovski, Sharon Dell, Hartmut Grasemann, Nades Palaniyar

Orphanet J Rare Dis. 2009; 4: 29. Published online 2009 Dec 23. doi: 10.1186/1750-1172-4-29

PMCID:: PMC2807424

Abstract Article PDF–3.5M

Select item 184513911.

Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report

Michele Ceruti, Giuseppe Rodi, Giulia M Stella, Andrea Adami, Antonia Bolongaro, Aldo Baritussio, Ernesto Pozzi, Maurizio Luisetti

Orphanet J Rare Dis. 2007; 2: 14. Published online 2007 Mar 26. doi: 10.1186/1750-1172-2-14

PMCID:: PMC1845139

Abstract Article PDF–3.0M

Select item 128835212.

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni, Giancarlo Parenti, Anna Buoninconti, Marta Manzoni, Barbara Incerti, Maria Rosaria Larocca, Maja Di Rocco, Pietro Strisciuglio, Irma Dianzani, Rossella Parini, Miranda Candito, Fumio Endo, Andrea Ballabio, Generoso Andria, Gianfranco Sebastio, Giuseppe Borsani

Am J Hum Genet. 2000 Jan; 66(1): 92–99. Published online 1999 Dec 20. doi: 10.1086/302700

PMCID:: PMC1288352

Abstract Article PDF–223K

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