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Select item 88399691.

Anthropometrics, Dietary Intake and Body Composition in Urea Cycle Disorders and Branched Chain Organic Acidemias: A Case Study of 18 Adults on Low-Protein Diets

Giorgia Gugelmo, Livia Lenzini, Francesco Francini-Pesenti, Ilaria Fasan, Paolo Spinella, Romina Valentini, Angela Miraval, Angelo Avogaro, Nicola Vitturi

Nutrients. 2022 Feb; 14(3): 467. Published online 2022 Jan 21. doi: 10.3390/nu14030467

PMCID:: PMC8839969

Abstract Article PDF–1.4M

Select item 87046012.

¹H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies

Ninna Pulido, Johana M. Guevara-Morales, Alexander Rodriguez-López, Álvaro Pulido, Jhon Díaz, Ru Angelie Edrada-Ebel, Olga Y. Echeverri-Peña

Metabolites. 2021 Dec; 11(12): 891. Published online 2021 Dec 20. doi: 10.3390/metabo11120891

PMCID:: PMC8704601

Abstract Article PDF–3.0M

Select item 87001123.

Fully Automated Quantitative Measurement of Serum Organic Acids via LC-MS/MS for the Diagnosis of Organic Acidemias: Establishment of an Automation System and a Proof-of-Concept Validation

Yasushi Ueyanagi, Daiki Setoyama, Daisuke Kawakami, Yuichi Mushimoto, Shinya Matsumoto, Taeko Hotta, Dongchon Kang

Diagnostics (Basel) 2021 Dec; 11(12): 2195. Published online 2021 Nov 25. doi: 10.3390/diagnostics11122195

PMCID:: PMC8700112

Abstract Article PDF–3.4M

Select item 82506614.

Management of COVID‐19 infection in organic acidemias

Shagun Kaur, Stephanie L. Campbell, David W. Stockton

Am J Med Genet A. 2021 Jun; 185(6): 1854–1857. Published online 2021 Mar 8. doi: 10.1002/ajmg.a.62161

PMCID:: PMC8250661

Abstract Article PDF–531K

Select item 78513275.

Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias

Ertugrul Kiykim, Ozge Oguz, Cisem Duman, Tanyel Zubarioglu, Mehmet Serif Cansever, Ayse Cigdem Aktuglu Zeybek

Mol Genet Metab Rep. 2021 Mar; 26: 100715. Published online 2021 Jan 30. doi: 10.1016/j.ymgmr.2021.100715

PMCID:: PMC7851327

Abstract Article PDF–834K

Select item 77822736.

Cardiac Complications of Propionic and Other Inherited Organic Acidemias

Kyung Chan Park, Steve Krywawych, Eva Richard, Lourdes R. Desviat, Pawel Swietach

Front Cardiovasc Med. 2020; 7: 617451. Published online 2020 Dec 22. doi: 10.3389/fcvm.2020.617451

PMCID:: PMC7782273

Abstract Article PDF–1.5M

Select item 76937477.

Nutrient Intake and Nutritional Status in Adult Patients with Inherited Metabolic Diseases Treated with Low-Protein Diets: A Review on Urea Cycle Disorders and Branched Chain Organic Acidemias

Francesco Francini-Pesenti, Giorgia Gugelmo, Livia Lenzini, Nicola Vitturi

Nutrients. 2020 Nov; 12(11): 3331. Published online 2020 Oct 29. doi: 10.3390/nu12113331

PMCID:: PMC7693747

Abstract Article PDF–259K

Select item 67143338.

Prenatal Diagnosis of Organic Acidemias at a Tertiary Center

Dr. A Tanacan, BB Gurbuz, E Aydin, M Erden, T Coskun, MS Beksac

Balkan J Med Genet. 2019 Jun; 22(1): 29–34. Published online 2019 Aug 28. doi: 10.2478/bjmg-2019-0003

PMCID:: PMC6714333

Abstract Article PDF–7.7M

Select item 63270099.

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias

F. Molema, E. H. Jacobs, W. Onkenhout, G. C. Schoonderwoerd, J. G. Langendonk, Monique Williams

J Inherit Metab Dis. 2018; 41(6): 1179–1187. Published online 2018 Aug 29. doi: 10.1007/s10545-018-0244-6

PMCID:: PMC6327009

Abstract Article PDF–579K

Select item 601458510.

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi

Mol Genet Metab Rep. 2018 Sep; 16: 5–10. Published online 2018 May 21. doi: 10.1016/j.ymgmr.2018.05.003

PMCID:: PMC6014585

Abstract Article PDF–233K

Select item 558510611.

The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening

Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster

JIMD Rep. 2017; 35: 53–58. Published online 2016 Dec 8. doi: 10.1007/8904_2016_25

PMCID:: PMC5585106

Abstract Article PDF–135K

Select item 557856812.

A Case of Organic Acidemia: Are Physicians Aware Enough?

Taskina Mosleh, Sanjoy Kumer Dey, Md Abdul Mannan

Euroasian J Hepatogastroenterol. 2016 Jan-Jun; 6(1): 89–90. Published online 2016 Jul 9. doi: 10.5005/jp-journals-10018-1175

PMCID:: PMC5578568

Abstract Article PDF–204K

Select item 511043713.

Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions

Marcus J. Miller, Bret L. Bostwick, Adam D. Kennedy, Taraka R. Donti, Qin Sun, V. Reid Sutton, Sarah H. Elsea

JIMD Rep. 2016; 30: 39–44. Published online 2016 Mar 3. doi: 10.1007/8904_2016_539

PMCID:: PMC5110437

Abstract Article PDF–245K

Select item 492355814.

Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias

Esther Imperlini, Lucia Santorelli, Stefania Orrù, Emanuela Scolamiero, Margherita Ruoppolo, Marianna Caterino

Biomed Res Int. 2016; 2016: 9210408. Published online 2016 Jun 14. doi: 10.1155/2016/9210408

PMCID:: PMC4923558

Abstract Article PDF–733K

Select item 488515815.

Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia

Reza NAJAFI, Mahin HASHEMIPOUR, Neda MOSTOFIZADEH, Mohammadreza GHAZAVI, Jafar NASIRI, Armindokht SHAHSANAI, Fatemeh FAMORI, Fatemeh NAJAFI, Mohammad MOAFI

Iran J Child Neurol. 2016 Spring; 10(2): 74–81.

PMCID:: PMC4885158

Abstract Article PDF–453K

Select item 461432316.

Diagnosis and clinical features of organic acidemias: A hospital-based study in a single center in Damascus, Syria

Hala Khalil Shennar, Diana Al-Asmar, Ahmad Kaddoura, Sahar Al-Fahoum

Qatar Med J. 2015; 2015(1): 9. Published online 2015 Jul 4. doi: 10.5339/qmj.2015.9

PMCID:: PMC4614323

Abstract Article PDF–201K

Select item 387718117.

Pediatric liver transplant for urea cycle disorders and organic acidemias: United Network for Organ Sharing (UNOS) data 2002–2012

Emily R. Perito, Sue Rhee, John Paul Roberts, Philip Rosenthal

Liver Transpl. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Liver Transpl. 2014 Jan; 20(1): 10.1002/lt.23765. Published online 2013 Nov 29. doi: 10.1002/lt.23765

PMCID:: PMC3877181

Abstract Article PDF–192K

Select item 1046826918.

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin

PamelaSara E. Head, Sangho Myung, Yong Chen, Jessica L. Schneller, Cindy Wang, Nicholas Duncan, Pauline Hoffman, David Chang, Abigael Gebremariam, Marjan Gucek, Irini Manoli, Charles P. Venditti

Sci Transl Med. Author manuscript; available in PMC 2023 Aug 30.

Published in final edited form as: Sci Transl Med. 2022 May 25; 14(646): eabn4772. Published online 2022 May 25. doi: 10.1126/scitranslmed.abn4772

PMCID:: PMC10468269

Abstract Article PDF–2.6M

Select item 1032853019.

Vitamin B2 enables regulation of fasting glucose availability

Peter M Masschelin, Pradip Saha, Scott A Ochsner, Aaron R Cox, Kang Ho Kim, Jessica B Felix, Robert Sharp, Xin Li, Lin Tan, Jun Hyoung Park, Liping Wang, Vasanta Putluri, Philip L Lorenzi, Alli M Nuotio-Antar, Zheng Sun, Benny Abraham Kaipparettu, Nagireddy Putluri, David D Moore, Scott A Summers, Neil J McKenna, Sean M Hartig

eLife. 2023; 12: e84077. Published online 2023 Jul 7. doi: 10.7554/eLife.84077

PMCID:: PMC10328530

Abstract Article PDF–9.9M

Select item 1026507120.

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang

Mol Genet Genomic Med. 2023 Jun; 11(6): e2152. Published online 2023 Feb 14. doi: 10.1002/mgg3.2152

PMCID:: PMC10265071

Abstract Article PDF–1.4M

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