PMC Articles for MedGen (Select 350108) - PMC

Select item 92832901.

A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants

Irina Geiculescu, Jason Dranove, Graham Cosper, Andrew C. Edmondson, Eva Morava‐Kozicz, Lauren B. Carter

Am J Med Genet A. 2022 Aug; 188(8): 2438–2442. Published online 2022 Jun 4. doi: 10.1002/ajmg.a.62859

PMCID:: PMC9283290

Abstract Article PDF–675K

Select item 90385742.

Non-conventional Genetic Basis of Congenital Adrenal Hypoplasia in South Asia

Sudip Chatterjee, Anirban Majumder

Cureus. 2022 Mar; 14(3): e23527. Published online 2022 Mar 26. doi: 10.7759/cureus.23527

PMCID:: PMC9038574

Abstract Article PDF–572K

Select item 72036513.

NGLY1 deficiency—A rare congenital disorder of deglycosylation

Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar

JIMD Rep. 2020 May; 53(1): 2–9. Published online 2020 Apr 10. doi: 10.1002/jmd2.12108

PMCID:: PMC7203651

Abstract Article PDF–918K

Select item 62941644.

Tear protein analysis in presumed congenital alacrima

Shigeharu Yaginuma, Yoko Akune, Chika Shigeyasu, Yoji Takano, Masakazu Yamada

Clin Ophthalmol. 2018; 12: 2591–2595. Published online 2018 Dec 11. doi: 10.2147/OPTH.S184207

PMCID:: PMC6294164

Abstract Article PDF–315K

Select item 57174935.

Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

Manar Alwohaib, Silvana Artioli Schellini, Sahar M. Elkhamary, Osama Al Shaikh

Saudi J Ophthalmol. 2017 Oct-Dec; 31(4): 257–259. Published online 2017 May 3. doi: 10.1016/j.sjopt.2017.04.008

PMCID:: PMC5717493

Abstract Article PDF–411K

Select item 52969286.

Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome

V. van Tellingen, M.J.J. Finken, J. Israëls, Y.M.C. Hendriks, G.A. Kamp, H.M. van Santen

Horm Res Paediatr. 2016 Jun 3; 86(6): 420–424. Published online 2016 Jun 3. doi: 10.1159/000446604

PMCID:: PMC5296928

Abstract Article

Select item 44873027.

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts

Ping He, Jeff E Grotzke, Bobby G Ng, Murat Gunel, Hamed Jafar-Nejad, Peter Cresswell, Gregory M Enns, Hudson H Freeze

Glycobiology. 2015 Aug; 25(8): 836–844. Published online 2015 Apr 21. doi: 10.1093/glycob/cwv024

PMCID:: PMC4487302

Abstract Article PDF–1.0M

Select item 80872128.

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation

Patricia Franzka, Henriette Henze, M. Juliane Jung, Svenja Caren Schüler, Sonnhild Mittag, Karina Biskup, Lutz Liebmann, Takfarinas Kentache, José Morales, Braulio Martínez, Istvan Katona, Tanja Herrmann, Antje-Kathrin Huebner, J. Christopher Hennings, Susann Groth, Lennart Gresing, Rüdiger Horstkorte, Thorsten Marquardt, Joachim Weis, Christoph Kaether, Osvaldo M. Mutchinick, Alessandro Ori, Otmar Huber, Véronique Blanchard, Julia von Maltzahn, Christian A. Hübner

J Clin Invest. 2021 May 3; 131(9): e139076. Published online 2021 May 3. doi: 10.1172/JCI139076

PMCID:: PMC8087212

Abstract Article PDF–22M

Select item 37912569.

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

Katrin Koehler, Meera Malik, Saqib Mahmood, Sebastian Gießelmann, Christian Beetz, J. Christopher Hennings, Antje K. Huebner, Ammi Grahn, Janine Reunert, Gudrun Nürnberg, Holger Thiele, Janine Altmüller, Peter Nürnberg, Rizwan Mumtaz, Dusica Babovic-Vuksanovic, Lina Basel-Vanagaite, Guntram Borck, Jürgen Brämswig, Reinhard Mühlenberg, Pierre Sarda, Alma Sikiric, Kwame Anyane-Yeboa, Avraham Zeharia, Arsalan Ahmad, Christine Coubes, Yoshinao Wada, Thorsten Marquardt, Dieter Vanderschaeghe, Emile Van Schaftingen, Ingo Kurth, Angela Huebner, Christian A. Hübner

Am J Hum Genet. 2013 Oct 3; 93(4): 727–734. doi: 10.1016/j.ajhg.2013.08.002

PMCID:: PMC3791256

Abstract Article PDF–642K

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