Works matching DE "GLYCOGEN storage disease type I"

Results: 25

The Effect of Intercellular Adhesion Molecule-1 Gene Polymorphism on Atherosclerosis in Patients with Glycogen Storage Disease Type 1.

Published in:

Journal of Pediatric Research, 2015, v. 2, n. 1, p. 7, doi. 10.4274/jpr.09719

By:

Uçar, Sema Kalkan;
Akman, Sezin;
Berdeli, Afig;
Çoker, Mahmut

Publication type:

Article

Gastric cancer following a liver transplantation for glycogen storage disease type Ia (von Gierke disease): A case report.

Published in:

2014

By:

HUA XIAO;
JIANMIN BIAN;
LEI ZHANG;
ZHAOMING WANG;
AIXING DING

Publication type:

Case Study

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.

Published in:

Journal of Gastroenterology, 2014, v. 49, n. 8, p. 1274, doi. 10.1007/s00535-013-0890-2

By:

Chiu, Li-Ya;
Kishnani, Priya;
Chuang, Tzu-Po;
Tang, Cheng-Yang;
Liu, Cheng-Yuan;
Bali, Deeksha;
Koeberl, Dwight;
Austin, Stephanie;
Boyette, Keri;
Weinstein, David;
Murphy, Elaine;
Yao, Adam;
Chen, Yuan-Tsong;
Li, Ling-Hui

Publication type:

Article

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 1, p. 59, doi. 10.1007/s00431-014-2354-y

By:

Zheng, Bi-Xia;
Lin, Qian;
Li, Mei;
Jin, Yu

Publication type:

Article

Glikojen depo tip 1a ve tip 1b olgular.

Published in:

Türk Pediatri Arşivi, 2013, v. 48, n. 2, p. 117, doi. 10.4274/tpa.185

By:

Tuba Eminoğlu, Fatma;
Tümer, Leyla;
Okur, İlyas;
Süheyl Ezgü, Fatih;
Hasanoğlu, Alev

Publication type:

Article

Glycogen Storage Disease 1 b: Diagnosis and Workup of a Novel Mutation.

Published in:

2016

By:

R. K., Sanjeev;
S., Shetty;
A., Harith;
B. T., Nair;
S., Surendran

Publication type:

Case Study

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 350, doi. 10.1111/cge.13093

By:

Skakic, A.;
Djordjevic, M.;
Sarajlija, A.;
Klaassen, K.;
Tosic, N.;
Kecman, B.;
Ugrin, M.;
Spasovski, V.;
Pavlovic, S.;
Stojiljkovic, M.

Publication type:

Article

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.

Published in:

Journal of Genetics, 2017, v. 96, n. 1, p. 19, doi. 10.1007/s12041-016-0734-y

By:

MAHMOUD, SHEKARI;
KHORRAMI, AZIZ;
RAFEEY, MANDANA;
GHERGHEREHCHI, ROBABEH;
SIMA, MANSOORI

Publication type:

Article

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis.

Published in:

Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2018, v. 17, n. 6, p. 903, doi. 10.5604/01.3001.0012.7189

By:

Zhi-yuan Chen;
Yu-pin Liu;
Guang-juan Zheng

Publication type:

Article

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0301-2

By:

Melis, Daniela;
Rossi, Alessandro;
Pivonello, Rosario;
Salerno, Mariacarolina;
Balivo, Francesca;
Spadarella, Simona;
Muscogiuri, Giovanna;
Casa, Roberto Della;
Formisano, Pietro;
Andria, Generoso;
Colao, Annamaria;
Parenti, Giancarlo

Publication type:

Article

Liver transplantation in glycogen storage disease type I.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-47

By:

Boers, Susanna J. B.;
Visser, Gepke;
Smit, Peter G. P. A.;
Fuchs, Sabine A.

Publication type:

Article

Challenges for achieving safe and effective radical cure of Plasmodium vivax: a round table discussion of the APMEN Vivax Working Group.

Published in:

Malaria Journal, 2017, v. 16, p. 1, doi. 10.1186/s12936-017-1784-1

By:

Thriemer, Kamala;
Ley, Benedikt;
Bobogare, Albino;
Dysoley, Lek;
Alam, Mohammad Shafiul;
Pasaribu, Ayodhia P.;
Sattabongkot, Jetsumon;
Jambert, Elodie;
Domingo, Gonzalo J.;
Commons, Robert;
Auburn, Sarah;
Marfurt, Jutta;
Devine, Angela;
Aktaruzzaman, Mohammad M.;
Sohel, Nayeem;
Namgay, Rinzin;
Drukpa, Tobgyel;
Sharma, Surender Nath;
Sarawati, Elvieda;
Samad, Iriani

Publication type:

Article

Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study.

Published in:

Histopathology, 2012, v. 60, n. 6B, p. E58, doi. 10.1111/j.1365-2559.2011.04153.x

By:

Sakellariou, Stratigoula;
Al-Hussaini, Hussa;
Scalori, Astrid;
Samyn, Marianne;
Heaton, Nigel;
Portmann, Bernard;
Tobal, Khalid;
Quaglia, Alberto

Publication type:

Article

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder.

Published in:

Case Reports in Medicine, 2016, p. 1, doi. 10.1155/2016/4362743

By:

Oster, Yonatan;
Wexler, Isaiah D.;
Heyman, Samuel N.;
Fried, Elchanan

Publication type:

Article

Management of Athletes With G6PD Deficiency: Does Missing an Enzyme Mean Missing More Games?

Published in:

2020

By:

Stone, Shane N.;
Reisig, Karl V.;
Saffel, Heather L.;
Miles, Christopher M.

Publication type:

journal article

Glycogen storage disease type I: clinical and laboratory profile.

Published in:

Jornal de Pediatria, 2014, v. 90, n. 6, p. 572, doi. 10.1016/j.jped.2014.02.005

By:

Santos, Berenice L.;
de Souza, Carolina F. M.;
Schuler-Faccini, Lavinia;
Refosco, Lilia;
Epifanio, Matias;
Nalin, Tatiele;
Vieira, Sandra M. G.;
Schwartz, Ida V. D.

Publication type:

Article

Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 4, p. 3251, doi. 10.3892/mmr.2016.5617

By:

YILI LU;
LIYIN WANG;
JUN LI;
BEIBEI WU;
HUIPING WU;
YUE LUO;
ZI-BING JIN;
XIAOOU SHAN

Publication type:

Article

IDENTIFICATION OF p.HIS119LEU MUTATION IN THE G6PC GENE OF A VIETNAMESE PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE Ia.

Published in:

Journal of Biology / TẠp chí Sinh HỌc, 2020, v. 42, n. 2, p. 93, doi. 10.15625/2615-9023/v42n2.14898

By:

Nguyen Huy Hoang;
Vu Chi Dung;
Nguyen Van Tung;
Nguyen Ngoc Lan;
Ha Thi Dung

Publication type:

Article

Rare Diseases.

Published in:: 2017
Publication type:: Abstract

GLYCOGEN STORAGE DISEASE TYPE 1B ASSOCIATED WITH A UNILATERAL HYPOPLASTIC TEMPORAL LOBE.

Published in:

Acta Endocrinologica (1841-0987), 2014, v. 10, n. 3, p. 530, doi. 10.4183/aeb.2014.530

By:

Kavecan, I. I.;
Obrenovic, M. R.;
Jovanovic-Privrodski, J. D.;
Redzek-Mudrinic, T. B.;
Konstantinidis, N. V.;
Vlaski, J. S.

Publication type:

Article

Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b.

Published in:

BMC Gastroenterology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12876-015-0271-9

By:

Volz, Magdalena Sarah;
Nassir, Mani;
Treese, Christoph;
von Winterfeld, Moritz;
Plöckinger, Ursula;
Epple, Hans-Jörg;
Siegmund, Britta

Publication type:

Article

Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2014, v. 17, n. 4, p. 239, doi. 10.5223/pghn.2014.17.4.239

By:

Yu Ju Jeong;
Ben Kang;
So Yoon Choi;
Chang-Seok Ki;
Soo-Youn Lee;
Hyung-Doo Park;
Yon Ho Choe

Publication type:

Article

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis.

Published in:

Hereditas, 2018, v. 155, n. 1, p. N.PAG, doi. 10.1186/s41065-018-0069-1

By:

Miao, Hefan;
Zhou, Jiapeng;
Yang, Qi;
Liang, Fan;
Wang, Depeng;
Ma, Na;
Gao, Bodi;
Du, Juan;
Lin, Ge;
Wang, Kai;
Zhang, Qianjun

Publication type:

Article

Continuous glucose monitoring in children with glycogen storage disease type I.

Published in:

European Journal of Clinical Nutrition, 2014, v. 68, n. 1, p. 101, doi. 10.1038/ejcn.2013.186

By:

Kasapkara, Ç. S.;
Cinasal Demir, G.;
Hasanoğlu, A.;
Tümer, L.

Publication type:

Article

Drug fever caused by propofol in the intensive care unit.

Published in:

Journal of Anesthesia, 2015, v. 29, n. 5, p. 786, doi. 10.1007/s00540-015-2007-y

By:

Yatabe, Tomoaki;
Yamashita, Koichi;
Yokoyama, Masataka

Publication type:

Article