Works matching Glycogen storage disease type VI

Results: 24

Glycogen storage disease type VI with a novel mutation in PYGL gene.

Published in:

Indian Pediatrics, 2017, v. 54, n. 9, p. 775, doi. 10.1007/s13312-017-1174-3

By:

Jagadisan, Barath;
Ranganath, Prajnya

Publication type:

Article

Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia.

Published in:

Pediatrics International, 2010, v. 52, n. 3, p. e150, doi. 10.1111/j.1442-200X.2010.03073.x

By:

Ogawa, Atsushi;
Ogawa, Emi;
Yamamoto, Shigenori;
Fukuda, Tokiko;
Sugie, Hideo;
Kohno, Yoichi

Publication type:

Article

Glycogen storage disease type VI: clinical course and molecular background.

Published in:

2020

By:

Aeppli, Tim RJ;
Rymen, Daisy;
Allegri, Gabriella;
Bode, Peter K;
Häberle, Johannes

Publication type:

journal article

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1321, doi. 10.1515/jpem-2020-0173

By:

Lu, Shi-Qi;
Feng, Jia-Yan;
Liu, Jie;
Xie, Xin-Bao;
Lu, Yi;
Abuduxikuer, Kuerbanjiang

Publication type:

Article

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.

Published in:

Genes, 2021, v. 12, n. 8, p. 1205, doi. 10.3390/genes12081205

By:

Grünert, Sarah Catharina;
Hannibal, Luciana;
Spiekerkoetter, Ute

Publication type:

Article

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 865, doi. 10.1093/hmg/7.5.865

By:

Chang, Susie;
Rosenberg, Marjorie J.;
Morton, Holmes;
Francomano, Clair A.;
Biesecker, Leslie G.

Publication type:

Article

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.

Published in:

2022

By:

Tagliaferri, Francesco;
Massese, Miriam;
Russo, Luisa;
Commone, Anna;
Gasperini, Serena;
Pretese, Roberta;
Dionisi-Vici, Carlo;
Maiorana, Arianna

Publication type:

journal article

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 3, p. 500, doi. 10.3390/diagnostics11030500

By:

Grünert, Sarah C.;
Hannibal, Luciana;
Schumann, Anke;
Rosenbaum-Fabian, Stefanie;
Beck-Wödl, Stefanie;
Haack, Tobias B.;
Grimmel, Mona;
Bertrand, Miriam;
Spiekerkoetter, Ute;
Gentile, Mattia

Publication type:

Article

Effects of supplementing the diets of Mugil liza Valenciennes, 1836 juveniles with citrus pectin.

Published in:

Journal of Applied Ichthyology, 2015, v. 31, n. 2, p. 362, doi. 10.1111/jai.12695

By:

Ramos, L. R. V.;
Monserrat, J. M.;
Romano, L. A.;
Sampaio, L. A.;
Abreu, P. C.;
Tesser, M. B.

Publication type:

Article

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.601566

By:

Eghbali, Maryam;
Fatemi, Kiyana Sadat;
Salehpour, Shadab;
Abiri, Maryam;
Saei, Hassan;
Talebi, Saeed;
Olyaei, Nasrin Alipour;
Yassaee, Vahid Reza;
Modarressi, Mohammad Hossein

Publication type:

Article

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01010-4

By:

Luo, Xiaomei;
Hu, Jiacheng;
Gao, Xueren;
Fan, Yanjie;
Sun, Yu;
Gu, Xuefan;
Qiu, Wenjuan

Publication type:

Article

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Published in:

2018

By:

Szymańska, Edyta;
Szymańska, Sylwia;
Truszkowska, Grażyna;
Ciara, Elżbieta;
Pronicki, Maciej;
Shin, Yoon S.;
Podskarbi, Teodor;
Kępka, Alina;
Śpiewak, Mateusz;
Płoski, Rafał;
Bilińska, Zofia T.;
Rokicki, Dariusz

Publication type:

journal article

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 557, doi. 10.1002/humu.24345

By:

Luo, Xiaomei;
Duan, Ying;
Fang, Di;
Sun, Yu;
Xiao, Bing;
Zhang, Huiwen;
Han, Lianshu;
Liang, Lili;
Gong, Zhuwen;
Gu, Xuefan;
Yu, Yongguo;
Qiu, Wenjuan

Publication type:

Article

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 267, doi. 10.1111/cge.14530

By:

Yu, Jindan;
Ling, Xiuxin;
Chen, Lingli;
Fang, Youhong;
Lin, Haihua;
Lou, Jingan;
Ren, Yanqi;
Chen, Jie

Publication type:

Article

Hepatic glycogen can regulate hypoglycemic counterregulation via a liver-brain axis.

Published in:

2016

By:

Winnick, Jason J.;
Kraft, Guillaume;
Gregory, Justin M.;
Edgerton, Dale S.;
Williams, Phillip;
Hajizadeh, Ian A.;
Kamal, Maahum Z.;
Smith, Marta;
Farmer, Ben;
Scott, Melanie;
Neal, Doss;
Donahue, E. Patrick;
Allen, Eric;
Cherrington, Alan D.

Publication type:

journal article

ANALYSIS OF RELIEF EFFECT OF CERVUS ELAPHUS BLOOD WINE ON PHYSICAL ACTIVITY INDUCED FATIGUE.

Published in:

Carpathian Journal of Food Science & Technology, 2016, v. 8, n. 3, p. 77

By:

Xiaolong Yang;
Shengli Liang;
Lina An;
Hongzhi Zhang

Publication type:

Article

High frequency of missense mutations in glycogen storage disease type VI.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 722, doi. 10.1007/s10545-007-0499-9

By:

Beauchamp, N.;
Taybert, J.;
Champion, M.;
Layet, V.;
Heinz-Erian, P.;
Dalton, A.;
Tanner, M.;
Pronicka, E.;
Sharrard, M.

Publication type:

Article

Effect of clonidine on the height of a child with glycogen storage disease type VI: A 13 year follow-up study.

Published in:

Pediatrics International, 1996, v. 38, n. 5, p. 524, doi. 10.1111/j.1442-200X.1996.tb03538.x

By:

ASAMI, TADASHI;
KIKUCHI, TOURU;
ASAMI, KEIKO;
UCHIYAMA, MAKOTO

Publication type:

Article

Insulin Resistance, Microbiota, and Fat Distribution Changes by a New Model of Vertical Sleeve Gastrectomy in Obese Rats.

Published in:

2016

By:

Basso, Nicola;
Soricelli, Emanuele;
Castagneto-Gissey, Lidia;
Casella, Giovanni;
Albanese, Davide;
Fava, Francesca;
Donati, Claudio;
Tuohy, Kieran;
Angelini, Giulia;
La Neve, Federica;
Severino, Anna;
Kamvissi-Lorenz, Virginia;
Birkenfeld, Andrea L.;
Bornstein, Stefan;
Manco, Melania;
Mingrone, Geltrude

Publication type:

journal article

Choice of diagnostic method for liver‐type glycogen storage disease.

Published in:

2022

By:

Kakiuchi, Toshihiko;
Zhang, Yumeng

Publication type:

Case Study

Hypoglycaemia related to inherited metabolic diseases in adults.

Published in:

2012

By:

Douillard, Claire;
Mention, Karine;
Dobbelaere, Dries;
Wemeau, Jean-Louis;
Saudubray, Jean-Marie;
Vantyghem, Marie-Christine

Publication type:

journal article

Hypoglycaemia related to inherited metabolic diseases in adults.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 26, doi. 10.1186/1750-1172-7-26

By:

Douillard, Claire;
Mention, Karine;
Dobbelaere, Dries;
Wemeau, Jean-Louis;
Saudubray, Jean-Marie;
Vantyghem, Marie-Christine

Publication type:

Article

Clinical and genetic spectrum of GSD type 6 in Korea.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02750-1

By:

Hahn, Jong Woo;
Lee, Heerah;
Seong, Moon Woo;
Kang, Gyeong Hoon;
Moon, Jin Soo;
Ko, Jae Sung

Publication type:

Article

Features of chinese patients with sitosterolemia.

Published in:

Lipids in Health & Disease, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12944-021-01619-1

By:

Zhou, Zhizi;
Su, Xueying;
Cai, Yanna;
Ting, Tzer Hwu;
Zhang, Wen;
Lin, Yunting;
Xu, Aijing;
Mao, Xiaojian;
Zeng, Chunhua;
Liu, Li;
Li, Xiuzhen

Publication type:

Article