Works matching Glycogen storage disease type III

Results: 110

Glikojen depo hastalığı tip III tanılı 10 Türk olgunun mutasyon analizleri: dört yeni mutasyonun tanımlanması.

Published in:

Türk Pediatri Arşivi, 2012, v. 47, n. 4, p. 278, doi. 10.4274/tpa.838

By:

Manguoğlu, Esra;
Uygun, Vedat;
Özkaya, Figen;
Lüleci, Güven;
Artan, Reha;
Berker, Sibel

Publication type:

Article

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 534, doi. 10.1111/j.1399-0004.2011.01806.x

By:

Mili, A;
Ben Charfeddine, I;
Amara, A;
Mamaï, O;
Adala, L;
Ben Lazreg, T;
Bouguila, J;
Saad, A;
Limem, K;
Gribaa, M

Publication type:

Article

Glikojen Depo Hastalığı Tip III'lü Olguda Perioperatif Anestezik Yaklaşım.

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2008, v. 30, n. 4, p. 288

By:

Biçer, Cihangir;
Öner, Mithat;
Ülgey, Ayşe;
Boyacı, Adem

Publication type:

Article

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 11, p. 681, doi. 10.1038/jhg.2009.100

By:

Aoyama, Yoshiko;
Ozer, Isil;
Demirkol, Mubeccel;
Ebara, Tetsu;
Murase, Toshio;
Podskarbi, Teodor;
Shin, Yoon S.;
Gokcay, Gulden;
Okubo, Minoru

Publication type:

Article

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 11, p. 958, doi. 10.1007/s10038-006-0045-x

By:

Endo, Yoriko;
Horinishi, Asako;
Vorgerd, Matthias;
Aoyama, Yoshiko;
Ebara, Tetsu;
Murase, Toshio;
Odawara, Masato;
Podskarbi, Teodor;
Shin, Yoon;
Okubo, Minoru

Publication type:

Article

Diabetes mellitus secondary to glycogen storage disease type III.

Published in:

Diabetic Medicine, 2000, v. 17, n. 11, p. 810, doi. 10.1046/j.1464-5491.2000.00378.x

By:

Oki, Y.;
Okubo, M.;
Tanaka, S.;
Nakanishi, K.;
Kobayashi, T.;
Murase, T.

Publication type:

Article

Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular.

Published in:

Biomédica: Revista del Instituto Nacional de Salud, 2018, v. 38, p. 30, doi. 10.7705/biomedica.v38i0.3454

By:

Mantilla, Carolina;
Toro, Mónica;
Sepúlveda, María Elsy;
Insuasty, Margarita;
di Filippo, Diana;
López, Juan Álvaro;
Baquero, Carolina;
Navas, María Cristina;
Arias, Andrés Augusto

Publication type:

Article

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.634

By:

Ponzi, Emanuela;
Alesi, Viola;
Lepri, Francesca R.;
Genovese, Silvia;
Loddo, Sara;
Mucciolo, Mafalda;
Novelli, Antonio;
Dionisi‐Vici, Carlo;
Maiorana, Arianna

Publication type:

Article

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Published in:

2022

By:

Wang, Jing;
Yu, Yuping;
Cai, Chunquan;
Zhi, Xiufang;
Zhang, Ying;
Zhao, Yu;
Shu, Jianbo

Publication type:

journal article

Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.

Published in:

Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 10, p. 1233, doi. 10.1515/CCLM.2009.281

By:

Endo, Yoriko;
Fateen, Ekram;
El Shabrawy, Mortada;
Aoyama, Yoshiko;
Ebara, Tetsu;
Murase, Toshio;
Podskarbi, Teodor;
Shin, Yoon S.;
Okubo, Minoru

Publication type:

Article

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

Published in:

Clinical Chemistry & Laboratory Medicine, 2008, v. 46, n. 9, p. 1245, doi. 10.1515/CCLM.2008.252

By:

Sue-Hyun Oh;
Hyung-Doo Park;
Chang-Seok Ki;
Yon-Ho Choe;
Soo-Youn Lee

Publication type:

Article

Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular.

Published in:

Revista Biomedica, 2018, p. 1, doi. 10.7705/biomedica.v38i0.3454

By:

Mantilla, Carolina;
Toro, Mónica;
Elsy Sepu'lveda, María;
Insuasty, Margarita;
di Filippo, Diana;
Álvaro López, Juan;
Baquero, Carolina;
Cristina Navas, Mari'a;
Augusto Arias, Andrés

Publication type:

Article

In vivo characterization of glycogen storage disease type III in a mouse model using glycoNOE MRI.

Published in:

Magnetic Resonance in Medicine, 2024, v. 91, n. 3, p. 1115, doi. 10.1002/mrm.29923

By:

Zeng, Qing;
Machado, Michael;
Bie, Chongxue;
van Zijl, Peter C. M.;
Malvar, Sofi;
Li, Yuguo;
D'souza, Valentina;
Poon, Kirsten Achilles;
Grimm, Andrew;
Yadav, Nirbhay N.

Publication type:

Article

Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis.

Published in:

International Journal of Organ Transplantation Medicine, 2017, v. 8, n. 4, p. 217

By:

Zobeiri, M.

Publication type:

Article

Long‐Term Correction of Murine Glycogen Storage Disease Type III by AAV‐Mediated Gene Therapy Using an Immunotolerizing Dual Promoter to Express Bacterial Pullulanase.

Published in:

Advances in Cell & Gene Therapy, 2025, v. 2025, p. 1, doi. 10.1155/acg2/4639392

By:

Liao, Kuo-An;
Lim, Jeong-A;
Choi, Su Jin;
Yi, Haiqing;
Sun, Baodong;
Pan, Dao

Publication type:

Article

Correction of glycogen storage disease type III with rapamycin in a canine model.

Published in:

Journal of Molecular Medicine, 2014, v. 92, n. 6, p. 641, doi. 10.1007/s00109-014-1127-4

By:

Yi, Haiqing;
Brooks, Elizabeth;
Thurberg, Beth;
Fyfe, John;
Kishnani, Priya;
Sun, Baodong

Publication type:

Article

Mutational analysis of ten Turkish patients with glycogen storage disease type III: identification of four novel mutations.

Published in:

2012

By:

Manguoğlu, Esra;
Uygun, Vedat;
Özkaya, Figen;
Lüleci, Güven;
Artan, Reha;
Berker, Sibel

Publication type:

Journal Article

CASE REPORT: Rupture of a gastric varix in liver cirrhosis associated with glycogen storage disease type III.

Published in:

Journal of Gastroenterology & Hepatology, 1998, v. 13, n. 2, p. 232, doi. 10.1111/j.1440-1746.1998.tb00643.x

By:

HASHIMOTO, MASAJI;
WATANABE, GORO;
YOKOYAMA, TSUYOSHI;
TSUTSUMI, KENJI;
DOHI, TAKEHIKO;
MATSUDA, MASAMICHI;
OKUBO, MINORU;
NAKAMURA, NORIMASA;
TSURUMARU, MASAHIKO

Publication type:

Article

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

Published in:

Molecular Biology Reports, 2013, v. 40, n. 7, p. 4197, doi. 10.1007/s11033-013-2500-z

By:

Ben Rhouma, Faten;
Azzouz, Hatem;
Petit, François;
Khelifa, Mariem;
Chehida, Amel;
Nasrallah, Fehmi;
Parisot, Frédéric;
Lasram, Khaled;
Kefi, Rym;
Bouyacoub, Yosra;
Romdhane, Lilia;
Baussan, Christiane;
Kaabachi, Naziha;
Ben Dridi, Marie-Françoise;
Tebib, Neji;
Abdelhak, Sonia

Publication type:

Article

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.

Published in:

1992

By:

Coleman, Rosalind A.;
Winter, Harland S.;
Wolf, Barry;
Gilchrist, James M.;
Yuan-Tsong Chen;
Coleman, R A;
Winter, H S;
Wolf, B;
Gilchrist, J M;
Chen, Y T

Publication type:

journal article

Successful pregnancy in a woman with glycogen storage disease type III.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2006, v. 46, n. 2, p. 168, doi. 10.1111/j.1479-828X.2006.00549.x

By:

Bhatti, Shazia;
Parry, Emma

Publication type:

Article

Skeletal and cardiac muscle involvement in children with glycogen storage disease type III.

Published in:

2015

By:

Mogahed, Engy;
Girgis, Marian;
Sobhy, Rodina;
Elhabashy, Hala;
Abdelaziz, Osama;
El-Karaksy, Hanaa;
Mogahed, Engy A;
Girgis, Marian Y;
Abdelaziz, Osama M

Publication type:

journal article

French recommendations for the management of glycogen storage disease type III.

Published in:

European Journal of Medical Research, 2023, v. 28, n. 1, p. 1, doi. 10.1186/s40001-023-01212-5

By:

Wicker, Camille;
Cano, Aline;
Decostre, Valérie;
Froissart, Roseline;
Maillot, François;
Perry, Ariane;
Petit, François;
Voillot, Catherine;
Wahbi, Karim;
Wenz, Joëlle;
Laforêt, Pascal;
Labrune, Philippe

Publication type:

Article

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 42, doi. 10.1038/jhg.2013.117

By:

Ko, Jae Sung;
Moon, Jin Soo;
Seo, Jeong Kee;
Yang, Hye Ran;
Chang, Ju Young;
Park, Sung Sup

Publication type:

Article

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 3, p. 170, doi. 10.1038/jhg.2011.122

By:

Mili, Amira;
Ben Charfeddine, Ilhem;
Mamaï, Ons;
Cherif, Wafa;
Adala, Labiba;
Amara, Abdelbasset;
Pagliarani, Serena;
Lucchiari, Sabrina;
Ayadi, Abdelkarim;
Tebib, Neji;
Harbi, Abdelaziz;
Bouguila, Jihene;
H'Mida, Dorra;
Saad, Ali;
Limem, Khalifa;
Comi, G P;
Gribaa, Moez

Publication type:

Article

Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 2, p. 55, doi. 10.1007/s100380200000

By:

Horinishi, Asako;
Okubo, Minoru;
Tang, Nelson L.S.;
Hui, Joannie;
To, Ka-Fai;
Mabuchi, Tomohito;
Okada, Toshihide;
Mabuchi, Hiroshi;
Murase, Toshio

Publication type:

Article

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III.

Published in:

International Journal of Endocrinology, 2023, p. 1, doi. 10.1155/2023/6679871

By:

Yu, Tingting;
Fu, Hao;
Yang, Aoyu;
Liang, Yan

Publication type:

Article

Glycogen storage disease type III: modified Atkins diet improves myopathy.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 196, doi. 10.1186/s13023-014-0196-3

By:

Mayorandan, Sebene;
Meyer, Uta;
Hartmann, Hans;
Das, Anibh Martin

Publication type:

Article

Galectin-3: a novel biomarker of glycogen storage disease type III.

Published in:

Cell Death Discovery, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41420-025-02452-6

By:

Rossiaud, Lucille;
Miagoux, Quentin;
Benabides, Manon;
Reiss, Océane;
Jauze, Louisa;
Jarrige, Margot;
Polvèche, Hélène;
Malfatti, Edoardo;
Laforêt, Pascal;
Ronzitti, Giuseppe;
Nissan, Xavier;
Hoch, Lucile

Publication type:

Article

Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 11, p. 2045, doi. 10.1093/hmg/ddp128

By:

Cheng, Alan;
Zhang, Mei;
Okubo, Minoru;
Omichi, Kaoru;
Saltiel, Alan R.

Publication type:

Article

Studies in Glycogen Storage Disease Type III: Kinetics of Amylo-1,6-Glucosidase in Human Erythrocytes.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 1971, v. 27, n. 3, p. 269, doi. 10.3109/00365517109080218

By:

Garatun-Tjeldst, Else;
Garatun-Tjeldst, O.

Publication type:

Article

A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 9, p. 979, doi. 10.1515/jpem-2018-0151

By:

Ben Chehida, Amel;
Ben Messaoud, Sana;
Ben Abdelaziz, Rim;
Mansouri, Hajer;
Boudabous, Hela;
Hakim, Kaouthar;
Ben Ali, Nadia;
Ben Ameur, Zeineb;
Sassi, Yosra;
Kaabachi, Neziha;
Abdelhak, Sonia;
Abdelmoula, Mohamed Slim;
Azzouz, Hatem;
Tebib, Neji

Publication type:

Article

Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.

Published in:

1998

By:

Shen, Jianjun;
Liu, Hui-Ming;
McConkie-Rosell, Allyn;
Chen, Yuan-Tsong;
Shen, J;
Liu, H M;
McConkie-Rosell, A;
Chen, Y T

Publication type:

journal article

Liver transplantation for glycogen storage disease types I, III, and IV.

Published in:

European Journal of Pediatrics, 1999, v. 158, n. 14, p. S043, doi. 10.1007/PL00014320

By:

Matern, D.;
Starzl, T. E.;
Arnaout, W.;
Barnard, J.;
Bynon, J. S.;
Dhawan, A.;
Emond, J.;
Haagsma, E. B.;
Hug, G.;
Lachaux, A.;
Smit, G. P. A.;
Chen, Y-T.

Publication type:

Article

The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 1/2, p. 195, doi. 10.1515/jpem-2014-0145

By:

El-Karaksy, Hanaa;
El-Raziky, Mona S.;
Anwar, Ghada;
Mogahed, Engy

Publication type:

Article

Glycogen Storage Disease Type III with Hypoketosis.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 8, p. 833, doi. 10.1515/jpem.2010.134

By:

Clemente, María;
Gussinyer, Miquel;
Arranz, José Antonio;
Riudor, Encarnació;
Yeste, Diego;
Albisu, Marian;
Carrascosa, Antonio

Publication type:

Article

Glycogen storage disease type III in Inuit children.

Published in:

Canadian Medical Association Journal (CMAJ), 2005, v. 172, n. 3, p. 355, doi. 10.1503/cmaj.1031589

By:

Zimakas, Paul James A.;
Rodd, Celia J.

Publication type:

Article

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0560-6

By:

Zhang, Yu;
Xu, Mingming;
Chen, Xiaoxia;
Yan, Aijuan;
Zhang, Guoyong;
Liu, Zhenguo;
Qiu, Wenjuan

Publication type:

Article

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

Published in:

Canadian Medical Association Journal (CMAJ), 2015, v. 187, n. 2, p. 108, doi. 10.1503/cmaj.140840

By:

Rousseau-Nepton, Isabelle;
Minoru Okubo;
Grabs, Rosemarie;
Mitchell, John;
Polychronakos, Constantin;
Rodd, Celia

Publication type:

Article

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.

Published in:

2016

By:

Zimmermann, Anca;
Rossmann, Heidi;
Bucerzan, Simona;
Grigorescu-Sido, Paula

Publication type:

Case Study

Successful pregnancy in a woman with glycogen storage disease type III.

Published in:

2006

By:

Bhatti S;
Parry E

Publication type:

Journal Article

Análisis clínico, molecular y bioinformático de paciente con enfermedad de Cori-Forbes en el Suroccidente Colombiano.

Published in:

Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2022, v. 1, n. 34, p. 10, doi. 10.47499/revistaaccb.v1i34.252

By:

Johanna Moreno-Giraldo, Lina;
Luis Estela-Zape, José;
Arturo-Terranova, Daniela;
María Satizábal-Soto, José

Publication type:

Article

Specific heart muscle disease associated with glycogen storage disease type III: clinical similarity to the dilated phase of hypertrophic cardiomyopathy.

Published in:

European Heart Journal, 1997, v. 18, n. 3, p. 532, doi. 10.1093/oxfordjournals.eurheartj.a015283

By:

AKAZAWA, H.;
KURODA, T.;
KIM, S.;
MITO, H.;
KOJO, T.;
SHIMADA, K.

Publication type:

Article

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 3, p. 221, doi. 10.1038/jhg.2012.3

By:

Mili, Amira;
Charfeddine, Ilhem Ben;
Mama, Ons;
Abdelhak, Sonia;
Adala, Labiba;
Amara, Abdelbasset;
Pagliarani, Serena;
Lucchiarri, Sabrina;
Ayadi, Abdelkarim;
Tebib, Neji;
Harbi, Abdelaziz;
Bouguila, Jihene;
H'Mida, Dorra;
Saad, Ali;
Limem, Khalifa;
Comi, G P;
Gribaa, Moez

Publication type:

Article

Corrigendum to "Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. Am J Med Genet Part A. 2020;182A:1190–1,200".

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1008, doi. 10.1002/ajmg.a.62014

By:

Perveen, Shama;
Gupta, Neerja;
Kumar, Manoj;
Kaur, Punit;
Chowdhury, Madhumita R.;
Kabra, Madhulika

Publication type:

Article

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1190, doi. 10.1002/ajmg.a.61547

By:

Perveen, Shama;
Gupta, Neerja;
Kumar, Manoj;
Kaur, Punit;
Chowdhury, Madhumita R.;
Kabra, Madhulika

Publication type:

Article

Neuromuscular Involvement in Glycogen Storage Disease Type III.

Published in:

Acta Paediatrica, 1986, v. 75, n. 2, p. 289, doi. 10.1111/j.1651-2227.1986.tb10201.x

By:

MOSES, S. W.;
GADOTH, N.;
BASHAN, N.;
BEN-DAVID, E.;
SLONIM, A.;
WANDERMAN, K. L.

Publication type:

Article

GLYCOGEN STORAGE DISEASE TYPE III AND DIABETES MELLITUS.

Published in:

Acta Paediatrica, 1972, v. 61, n. 4, p. 483, doi. 10.1111/j.1651-2227.1972.tb15869.x

By:

MOE, PETER JOHAN;
WAALER, PER ERIK;
GARATUN-TJELDSTØ, ODDVARD

Publication type:

Article

GENETIC STUDIES IN GLYCOGEN STORAGE DISEASE TYPE III.

Published in:

Acta Paediatrica, 1970, v. 59, n. 5, p. 529, doi. 10.1111/j.1651-2227.1970.tb16803.x

By:

WAALER, PER ERIK;
GARATUN-TJELDSTØ, ODDVARD;
MOE, PETER JOHAN

Publication type:

Article

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 770, doi. 10.1002/jimd.12224

By:

Rossi, Alessandro;
Hoogeveen, Irene J.;
Bastek, Vanessa B.;
Boer, Foekje;
Montanari, Chiara;
Meyer, Uta;
Maiorana, Arianna;
Bordugo, Andrea;
Dianin, Alice;
Campana, Carmen;
Rigoldi, Miriam;
Kishnani, Priya S.;
Pendyal, Surekha;
Strisciuglio, Pietro;
Gasperini, Serena;
Parenti, Giancarlo;
Parini, Rossella;
Paci, Sabrina;
Melis, Daniela;
Derks, Terry G. J.

Publication type:

Article