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Select item 94749071.

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance

Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek

Clin Case Rep. 2022 Sep; 10(9): e6347. Published online 2022 Sep 14. doi: 10.1002/ccr3.6347

PMCID:: PMC9474907

Article PDF–622K

Select item 90159432.

Tropical Fever: Unveiling an Asymptomatic Case of Polycythemia Vera

B Kishansing Naik, Sulakshana Sulakshana, Justin Aryabhat Gopaldas, Sai Devvrat

Indian J Crit Care Med. 2022 Mar; 26(3): 387–389. doi: 10.5005/jp-journals-10071-24137

PMCID:: PMC9015943

Article

Select item 103787863.

Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum

Sarah C. Grünert, Athanasia Ziagaki, André Heinen, Anke Schumann, Sara Tucci, Ute Spiekerkoetter, Miriam Schmidts

Genes (Basel) 2023 Jul; 14(7): 1408. Published online 2023 Jul 7. doi: 10.3390/genes14071408

PMCID:: PMC10378786

Article PDF–830K

Select item 103600244.

Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B

Mei Xue

Front Endocrinol (Lausanne) 2023; 14: 1199590. Published online 2023 Jul 7. doi: 10.3389/fendo.2023.1199590

PMCID:: PMC10360024

Article PDF–7.9M

Select item 103238755.

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia

Sangwoo T Han, Katherine J Anderson, Hans T Bjornsson, Nicola Longo, David Valle

J Inherit Metab Dis. Author manuscript; available in PMC 2023 Jul 6.

Published in final edited form as: J Inherit Metab Dis. 2022 Jul; 45(4): 710–718. Published online 2022 Jun 28. doi: 10.1002/jimd.12524

PMCID:: PMC10323875

Article PDF–1004K

Select item 102240546.

Citrin Deficiency: Clinical and Nutritional Features

Michiharu Komatsu, Naoki Tanaka, Takefumi Kimura, Masahide Yazaki

Nutrients. 2023 May; 15(10): 2284. Published online 2023 May 12. doi: 10.3390/nu15102284

PMCID:: PMC10224054

Article PDF–1.3M

Select item 96396387.

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

Ann Clin Transl Neurol. 2022 Nov; 9(11): 1715–1726. Published online 2022 Oct 10. doi: 10.1002/acn3.51668

PMCID:: PMC9639638

Article PDF–1.2M

Select item 93051798.

Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach

Loek L. Crefcoeur, Gepke Visser, Sacha Ferdinandusse, Frits A. Wijburg, Mirjam Langeveld, Barbara Sjouke

J Inherit Metab Dis. 2022 May; 45(3): 386–405. Published online 2022 Feb 3. doi: 10.1002/jimd.12475

PMCID:: PMC9305179

Article PDF–2.5M

Select item 77126059.

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Lili Liang, Yu Wang, Wenjun Ji, Xia Zhan, Xuefan Gu, Lianshu Han

Orphanet J Rare Dis. 2020; 15: 340. Published online 2020 Dec 3. doi: 10.1186/s13023-020-01606-2

PMCID:: PMC7712605

Article PDF–1.0M

Select item 754590010.

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature

Aileen Kenneson, Rani H. Singh

Orphanet J Rare Dis. 2020; 15: 279. Published online 2020 Oct 9. doi: 10.1186/s13023-020-01560-z

PMCID:: PMC7545900

Article PDF–897K

Select item 702373211.

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

Sarah C. Grünert, Jörn Oliver Sass

Orphanet J Rare Dis. 2020; 15: 48. Published online 2020 Feb 14. doi: 10.1186/s13023-020-1319-7

Correction in:: Orphanet J Rare Dis. 2022; 17: 16.

PMCID:: PMC7023732

Article PDF–1.0M

Select item 676463512.

Early prediction of phenotypic severity in Citrullinemia Type 1

Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset, the Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

Ann Clin Transl Neurol. 2019 Sep; 6(9): 1858–1871. Published online 2019 Aug 30. doi: 10.1002/acn3.50886

PMCID:: PMC6764635

Article PDF–735K

Select item 666858213.

Management of Ornithine Carbamoyltransferase Deficiency with Underlying Hyperammonia Hyperinsulinemia Syndrome

Neer Dhillon, Andrew Stevens

Am J Case Rep. 2019; 20: 1085–1088. Published online 2019 Jul 24. doi: 10.12659/AJCR.914416

PMCID:: PMC6668582

Article PDF–1.0M

Select item 642166514.

A newborn with seizures born to a mother diagnosed with primary carnitine deficiency

Si Chen, Yingying Hu, Yumei Huang, Yan Nan, Xiaojian Zhou, Shangqin Chen, Jin Lin, Zhenlang Lin

BMC Pediatr. 2019; 19: 79. Published online 2019 Mar 18. doi: 10.1186/s12887-019-1452-4

PMCID:: PMC6421665

Article PDF–3.1M

Select item 554517015.

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase

Mary Barrosse-Antle, Chang Su, Pan Chen, Kara E. Boodhansingh, Thomas J Smith, Charles A Stanley, Diva D. De León, Changhong Li

Pediatr Diabetes. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Pediatr Diabetes. 2017 Dec; 18(8): 911–916. Published online 2017 Feb 6. doi: 10.1111/pedi.12507

PMCID:: PMC5545170

Article PDF–920K

Select item 539315716.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Saskia B. Wortmann, Margaret A. Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D. Botto, Tatiana Yuzyuk, Curtis R. Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B. Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A. J. Kluijtmans, Srirangan Sampath, Emil F. Pai, Ron A. Wevers, George E. Tiller, and additional individual contributors

J Inherit Metab Dis. 2017; 40(3): 423–431. Published online 2017 Feb 15. doi: 10.1007/s10545-017-0015-9

PMCID:: PMC5393157

Article PDF–1.2M

Select item 518346617.

Comparison of methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in time to evaluation and symptoms at presentation

Nicholas M. McCrory, Mathew J. Edick, Ayesha Ahmad, Susan Lipinski, Jessica A. Scott Schwoerer, Shaohui Zhai, Kaitlin Justice, Cynthia A. Cameron, Susan A. Berry, Loren D.M. Pena

J Pediatr. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: J Pediatr. 2017 Jan; 180: 200–205.e8. Published online 2016 Oct 21. doi: 10.1016/j.jpeds.2016.09.050

PMCID:: PMC5183466

Article PDF–454K

Select item 462173118.

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia

Sarar Mohamed, Muddathir H. Hamad, Altaf A. Kondkar, Khaled K. Abu-Amero

Saudi Med J. 2015 Oct; 36(10): 1229–1232. doi: 10.15537/smj.2015.10.12127

PMCID:: PMC4621731

Article PDF–258K

Select item 430408819.

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

Catia Cavicchi, Maria Alice Donati, Rossella Parini, Miriam Rigoldi, Mauro Bernardi, Francesca Orfei, Nicolò Gentiloni Silveri, Aniello Colasante, Silvia Funghini, Serena Catarzi, Elisabetta Pasquini, Giancarlo la Marca, Sean David Mooney, Renzo Guerrini, Amelia Morrone

Orphanet J Rare Dis. 2014; 9: 105. Published online 2014 Jul 16. doi: 10.1186/s13023-014-0105-9

PMCID:: PMC4304088

Article PDF–1.1M

Select item 355204020.

GLUTAMATE DEHYDROGENASE 1 AND SIRT4 REGULATE GLIAL DEVELOPMENT

Daniel Komlos, Kara D. Mann, Yue Zhuo, Christopher L. Ricupero, Ronald P. Hart, Alice Y.-C. Liu, Bonnie L. Firestein

Glia. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Glia. 2013 Mar; 61(3): 394–408. Published online 2012 Dec 22. doi: 10.1002/glia.22442

PMCID:: PMC3552040

Article PDF–2.7M

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