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Select item 104875391.

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1

Madalena Barroso, Marcus Gertzen, Alexandra F. Puchwein-Schwepcke, Heike Preisler, Andreas Sturm, Dunja D. Reiss, Marta K. Danecka, Ania C. Muntau, Søren W. Gersting

Int J Mol Sci. 2023 Sep; 24(17): 13158. Published online 2023 Aug 24. doi: 10.3390/ijms241713158

PMCID:: PMC10487539

Abstract Article PDF–1.8M

Select item 103732842.

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo, Liangpu Xu

Orphanet J Rare Dis. 2023; 18: 215. Published online 2023 Jul 26. doi: 10.1186/s13023-023-02833-z

PMCID:: PMC10373284

Abstract Article PDF–1.1M

Select item 87147943.

Glutaric Acidemia, Pathogenesis and Nutritional Therapy

Qian Li, Chunlan Yang, Lijuan Feng, Yazi Zhao, Yong Su, Hong Liu, Hongkang Men, Yan Huang, Heinrich Körner, Xinming Wang

Front Nutr. 2021; 8: 704984. Published online 2021 Dec 15. doi: 10.3389/fnut.2021.704984

PMCID:: PMC8714794

Abstract Article PDF–3.5M

Select item 85432984.

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2

Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, Monisha Kisling, Fernando Scaglia, Kimberly A. Chapman, Yudong Wang, Jerry Vockley, Carlos R. Ferreira

Am J Med Genet A. Author manuscript; available in PMC 2021 Oct 25.

Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2426–2431. Published online 2020 Aug 17. doi: 10.1002/ajmg.a.61786

PMCID:: PMC8543298

Abstract Article PDF–724K

Select item 84230835.

A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1

Sima Rayat, Saeid Morovvati

Clin Case Rep. 2021 Sep; 9(9): e04749. Published online 2021 Sep 7. doi: 10.1002/ccr3.4749

PMCID:: PMC8423083

Abstract Article PDF–317K

Select item 83358636.

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng, Dongmei Chen

Orphanet J Rare Dis. 2021; 16: 339. Published online 2021 Aug 3. doi: 10.1186/s13023-021-01964-5

PMCID:: PMC8335863

Abstract Article PDF–1.2M

Select item 83322527.

CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients.

J Brismar, P T Ozand

AJNR Am J Neuroradiol. 1995 Apr; 16(4): 675-83.

PMCID:: PMC8332252

Summary PDF–491K

Select item 82604828.

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli

JIMD Rep. 2021 Jul; 60(1): 67–74. Published online 2021 Apr 5. doi: 10.1002/jmd2.12217

PMCID:: PMC8260482

Abstract Article PDF–970K

Select item 76667899.

Orthopaedic manifestations of glutaric acidemia Type 1

Ahmet Imerci, Kevin A. Strauss, Geovanny F. Oleas-Santillan, Freeman Miller

J Child Orthop. 2020 Oct 1; 14(5): 473–479. doi: 10.1302/1863-2548.14.200059

PMCID:: PMC7666789

Abstract Article PDF–645K

Select item 727562010.

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

Mohammad Reza Alaei, Meghdad Kheirkhahan, Saeed Talebi, Elham Davoudi-Dehaghani, Mohammad Keramatipour

Iran Biomed J. 2020 May; 24(3): 201–205. Published online 2019 Nov 27. doi: 10.29252/ibj.24.3.201

PMCID:: PMC7275620

Abstract Article PDF–716K

Select item 725114811.

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches

Bing Xiao, Wenjuan Qiu, Jun Ye, Huiwen Zhang, Hong Zhu, Lei Wang, Lili Liang, Feng Xu, Ting Chen, Yan Xu, Yongguo Yu, Xuefan Gu, Lianshu Han

Front Genet. 2020; 11: 496. Published online 2020 May 20. doi: 10.3389/fgene.2020.00496

PMCID:: PMC7251148

Abstract Article PDF–250K

Select item 721258812.

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang

BMC Med Genet. 2020; 21: 98. Published online 2020 May 11. doi: 10.1186/s12881-020-00995-2

PMCID:: PMC7212588

Abstract Article PDF–755K

Select item 661725013.

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1

Hatem Zayed, Hamed El Khayat, Hoda Tomoum, Ola Khalifa, Ehab Siddiq, Shaimaa A. Mohammad, Radwa Gamal, Zumin Shi, Ahmed Mosailhy, Osama K. Zaki

Metab Brain Dis. 2019; 34(4): 1231–1241. Published online 2019 May 6. doi: 10.1007/s11011-019-00422-3

PMCID:: PMC6617250

Abstract Article PDF–505K

Select item 626499414.

Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature

Neslihan Yildirim Saral, Fehime Benli Aksungar, Cigdem Aktuglu-Zeybek, Julide Coskun, Ozlem Demirelce, Mustafa Serteser

World J Clin Cases. 2018 Nov 26; 6(14): 786–790. Published online 2018 Nov 26. doi: 10.12998/wjcc.v6.i14.786

PMCID:: PMC6264994

Abstract Article PDF–773K

Select item 612202315.

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

Bimal Patel, Surekha Pendyal, Priya S. Kishnani, Marie McDonald, Lauren Bailey

JIMD Rep. 2018; 40: 85–90. Published online 2017 Nov 1. doi: 10.1007/8904_2017_66

PMCID:: PMC6122023

Abstract Article PDF–243K

Select item 587421816.

Glutaric Acidemia Type 1: A Case of Infantile Stroke

Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş

JIMD Rep. 2018; 38: 7–12. Published online 2017 Apr 15. doi: 10.1007/8904_2017_26

PMCID:: PMC5874218

Abstract Article PDF–250K

Select item 475055917.

Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry

Ruby P. Babu, G. Bishnupriya, P.K. Thushara, Christy Alap, Rohit Cariappa, Annapoorani, Kasi Viswanathan

Mol Genet Metab Rep. 2015 Jun; 3: 75–79. Published online 2015 May 14. doi: 10.1016/j.ymgmr.2015.04.002

PMCID:: PMC4750559

Abstract Article PDF–795K

Select item 447095618.

Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

Neerja Gupta, Pawan Kumar Singh, Manoj Kumar, Shivaram Shastri, Sheffali Gulati, Atin Kumar, Anuja Agarwala, Seema Kapoor, Mohandas Nair, Savita Sapra, Sudhisha Dubey, Ankur Singh, Punit Kaur, Madhulika Kabra

JIMD Rep. 2015; 21: 45–55. Published online 2015 Mar 12. doi: 10.1007/8904_2014_377

Correction in:: JIMD Rep. 2015; 21: 129.

PMCID:: PMC4470956

Abstract Article PDF–541K

Select item 394244119.

Increased Glutamate Receptor and Transporter Expression in the Cerebral Cortex and Striatum of Gcdh^-/- Mice: Possible Implications for the Neuropathology of Glutaric Acidemia Type I

Valeska Lizzi Lagranha, Ursula Matte, Talita Giacomet de Carvalho, Bianca Seminotti, Carolina Coffi Pereira, David M. Koeller, Michael Woontner, Stephen I. Goodman, Diogo Onofre Gomes de Souza, Moacir Wajner

PLoS One. 2014; 9(3): e90477. Published online 2014 Mar 4. doi: 10.1371/journal.pone.0090477