PMC Articles for MedGen (Select 75704) - PMC

Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima

JIMD Rep. 2023 Nov; 64(6): 410–416. Published online 2023 Sep 7. doi: 10.1002/jmd2.12392

PMCID:: PMC10623098

Abstract Article PDF–3.4M

Select item 105739335.

Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review

Adriana Pané, Camila Milad, Marta Santana-Domínguez, Núria Baños, Cristina Borras-Novell, Gerard Espinosa, Laura Magnano, Meritxell Nomdedeu, Pedro Juan Moreno-Lozano, Frederic Cofan, Mercè Placeres, Rosa Maria Fernández, Judit García-Villoria, Glòria Garrabou, Irene Vinagre, Laura M. Tanner, Cristina Montserrat-Carbonell, Maria de Talló Forga-Visa

J Clin Med. 2023 Oct; 12(19): 6405. Published online 2023 Oct 8. doi: 10.3390/jcm12196405

PMCID:: PMC10573933

Abstract Article PDF–873K

Select item 104457266.

Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance

Bridget M. Stroup, Xiaohui Li, Sara Ho, Haonan Zhouyao, Yuqing Chen, Safa Ani, Brian Dawson, Zixue Jin, Ronit Marom, Ming-Ming Jiang, Isabel Lorenzo, Daniel Rosen, Denise Lanza, Nathalie Aceves, Sara Koh, John R. Seavitt, Jason D. Heaney, Brendan Lee, Lindsay C. Burrage

Dis Model Mech. 2023 Aug 1; 16(8): dmm050118. Published online 2023 Aug 17. doi: 10.1242/dmm.050118

PMCID:: PMC10445726

Abstract Article

Select item 103917687.

Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report

Chanika Lokuhewage, Hashan Pathiraja, Piyumi Madawala, Sudarshana Bandara, Sachith Mettananda

BMC Pediatr. 2023; 23: 382. Published online 2023 Aug 1. doi: 10.1186/s12887-023-04207-7

PMCID:: PMC10391768

Abstract Article PDF–706K

Select item 103153908.

Plasma calprotectin is extremely high in patients with lysinuric protein intolerance

Mari Kärki, Laura Tanner, Satu Lahtinen, Tero Soukka, Harri Niinikoski

JIMD Rep. 2023 Jul; 64(4): 293–299. Published online 2023 Jun 20. doi: 10.1002/jmd2.12377

PMCID:: PMC10315390

Abstract Article PDF–883K

Select item 93314059.

Children with lysinuric protein intolerance: Experience from a lower middle income country

Syed Bilal Hashmi, Sibtain Ahmed

World J Clin Pediatr. 2022 Jul 9; 11(4): 369–374. Published online 2022 Jul 9. doi: 10.5409/wjcp.v11.i4.369

PMCID:: PMC9331405

Abstract Article PDF–547K

Select item 817298410.

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, James R. Lupski, Ivan K. Chinn, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli

Front Pediatr. 2021; 9: 673957. Published online 2021 May 20. doi: 10.3389/fped.2021.673957

PMCID:: PMC8172984

Abstract Article PDF–4.9M

Select item 797323911.

Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy

Sarah Al-Qattan, Caroline Malcolmson, Saadet Mercimek-Andrews

Mol Genet Metab Rep. 2021 Jun; 27: 100741. Published online 2021 Mar 13. doi: 10.1016/j.ymgmr.2021.100741

PMCID:: PMC7973239

Abstract Article PDF–854K

Select item 759090212.

Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis

Firas Alqarajeh, Jacklyn Omorodion, Kerri Bosfield, Natasha Shur, Carlos R. Ferreira

Transl Sci Rare Dis. 2020; 5(1-2): 81–86. Prepublished online 2019 Jun 14. Published online 2020 Aug 3. doi: 10.3233/TRD-190035

PMCID:: PMC7590902

Abstract Article PDF–59K

Select item 738922613.

3例赖氨酸尿性蛋白耐受不良患儿的临床特点及SLC7A7基因突变分析

崔冬, 胡宇慧, 唐根, 沈丹, 陈黎, 廖建湘, 陈淑丽

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Apr 25; 21(4): 375–380. Chinese. doi: 10.7499/j.issn.1008-8830.2019.04.014

PMCID:: PMC7389226

Abstract Article PDF–1.8M

Select item 730384514.

Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance

Christos Dimitriou, Souha Saliba, Xavier Peyrassol, Wafa Ben Abbou, Marie Cécile Nassogne, Carine Neugroschl, Elsa Wiame, Anne De Leener, Marie Cassart

Clin Case Rep. 2020 Jun; 8(6): 1010–1014. Published online 2020 Mar 6. doi: 10.1002/ccr3.2780

PMCID:: PMC7303845

Abstract Article PDF–412K

Select item 693340915.

y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance

Bianca Maria Rotoli, Amelia Barilli, Rossana Visigalli, Francesca Ferrari, Valeria Dall’Asta

J Cell Mol Med. 2020 Jan; 24(1): 921–929. Published online 2019 Nov 9. doi: 10.1111/jcmm.14801

PMCID:: PMC6933409

Abstract Article PDF–533K

Select item 609937316.

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

Guoqing Zhang, Ling Cao

Pediatr Pulmonol. 2017 Nov; 52(11): E94–E96. Published online 2017 Oct 23. doi: 10.1002/ppul.23760

PMCID:: PMC6099373

Abstract Article PDF–396K

Select item 550954117.

Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance

Laura M. Tanner, Johanna Kurko, Maaria Tringham, Heikki Aho, Juha Mykkänen, Kirsti Näntö-Salonen, Harri Niinikoski, Heikki Lukkarinen

JIMD Rep. 2017; 34: 97–104. Published online 2016 Oct 26. doi: 10.1007/8904_2016_15

PMCID:: PMC5509541

Abstract Article PDF–395K

Select item 547116218.

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 521720519.

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 505921720.

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

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