Works matching Glycogen storage disease type I

Results: 135

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

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

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

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

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

MOLECULAR DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE I: A REVIEW.

Published in:

EXCLI Journal, 2019, v. 18, p. 30, doi. 10.17179/excli2018-1877

By:

Beyzaei, Zahra;
Geramizadeh, Bita

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

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

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

Novel Approaches in Glycogen Storage Disease Type I Management: Harnessing the Potential of Micronutrients and Macro Molecules.

Published in:

International Journal of Pharmaceutical Investigation, 2024, v. 14, n. 1, p. 141, doi. 10.5530/ijpi.14.1.18

By:

Patil, Santosh B.;
Gadad, Pramod C.

Publication type:

Article

Chlorogenic Acid, a Potential Glucose-6-Phosphatase Inhibitor: An Approach to Develop a Pre-Clinical Glycogen Storage Disease Type I Model.

Published in:

Indian Journal of Pharmaceutical Education & Research, 2024, v. 58, p. S372, doi. 10.5530/ijper.58.2s.40

By:

Patil, Santosh B.;
Gadad, Pramod C.

Publication type:

Article

Renal sonographic findings of type I glycogen storage disease in infancy and early childhood.

Published in:

Pediatric Radiology, 2005, v. 35, n. 8, p. 786, doi. 10.1007/s00247-005-1478-7

By:

Chun-Chen Lin;
Jeng-Daw Tsai;
Shuan-Pei Lin;
Hung-Chang Lee

Publication type:

Article

Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 5/6, p. 427, doi. 10.1515/jpem-2012-0306

By:

Kasapkara, Çiğdem Seher;
Tümer, Leyla;
Biberoglu, Gursel;
Kasapkara, Ahmet;
Hasanoğlu, Alev

Publication type:

Article

Impact of glycogen storage disease type I on adult daily life: a survey.

Published in:

2021

By:

Garbade, Sven F.;
Ederer, Viviane;
Burgard, Peter;
Wendel, Udo;
Spiekerkoetter, Ute;
Haas, Dorothea;
Grünert, Sarah C.

Publication type:

journal article

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

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

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.

Published in:

2020

By:

Rossi, Alessandro;
Simeoli, Chiara;
Salerno, Mariacarolina;
Ferrigno, Rosario;
Della Casa, Roberto;
Colao, Annamaria;
Strisciuglio, Pietro;
Parenti, Giancarlo;
Pivonello, Rosario;
Melis, Daniela

Publication type:

journal article

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

Hyperfiltration and renal disease in glycogen storage disease, type I.

Published in:

Kidney International, 1989, v. 35, n. 6, p. 1345, doi. 10.1038/ki.1989.133

By:

Baker, Lester;
Dahlem, Stephen;
Goldfarb, Stanley;
Kern, Elizabeth F. O.;
Stanley, Charles A.;
Egler, Joseph;
Olshan, Jerrold S.;
Heyman, Sidney

Publication type:

Article

Ocular Changes of Glycogen Storage Disease Type I.

Published in:

Ophthalmologica, 1995, v. 209, n. 2, p. 92, doi. 10.1159/000310588

By:

Abe, Toshiaki;
Tamai, Makoto

Publication type:

Article

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 914, doi. 10.1093/hmg/ddab297

By:

Monteillet, Laure;
Labrune, Philippe;
Hochuli, Michel;
Cao, Jeremy Do;
Tortereau, Antonin;
Miliano, Alexane Cannella;
Ardon-Zitoun, Carine;
Duchampt, Adeline;
Silva, Marine;
Verzieux, Vincent;
Mithieux, Gilles;
Rajas, Fabienne

Publication type:

Article

How many forms of glycogen storage disease type I?

Published in:

2000

By:

Veiga-da-Cunha, Maria;
Gerin, Isabelle;
Van Schaftingen, Emile;
Veiga-da-Cunha, M;
Gerin, I;
Van Schaftingen, E

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

Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?

Published in:

Journal of Current Pediatrics / Guncel Pediatri, 2023, v. 21, n. 3, p. 228, doi. 10.4274/jcp.2023.56255

By:

Şanlı, Merve Emecen;
Aktaş, Emine;
İnci, Aslı;
Okur, İlyas;
Ezgü, Fatih;
Tümer, Leyla

Publication type:

Article

Liver transplantation in glycogen storage disease type I.

Published in:

2014

By:

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

Publication type:

journal article

Hypercalcemia in glycogen storage disease type I patients of Turkish origin.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 1, p. 35

By:

Kasapkara, Çiğdem Seher;
Tümer, Leyla;
Okur, İlyas;
Eminoğlu, Tuba;
Ezgü, Fatih Süheyl;
Hasanoğlu, Alev

Publication type:

Article

Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report.

Published in:

2016

By:

TOMOHIRO IGUCHI;
MOTOYUKI YAMAGATA;
TAKASHI SONODA;
KIMIHIKO YANAGITA;
TETSUHIRO FUKAHORI;
EIJI TSUJITA;
SHINICHI AISHIMA;
YOSHINAO ODA;
YOSHIHIKO MAEHARA

Publication type:

Case Study

TYPE I GLYCOGEN STORAGE DISEASE - CASE PRESENTATION.

Published in:

Acta Medica Marisiensis, 2019, v. 65, p. 17

By:

Madalina, Tatarciuc;
Daniela, Spirea;
Cristian, Minulescu

Publication type:

Article

Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA.

Published in:

2012

By:

Sakamoto, Ayami;
Hayashi, Hideyuki;
Sakamoto, Ichiro;
Isomoto, Ichiro;
Eguchi, Susumu;
Takatsuki, Mitsuhisa;
Ichikawa, Tatsuki;
Abe, Kuniko;
Hayashi, Tomayoshi;
Uetani, Masataka

Publication type:

Report

Progressive development of renal cysts in glycogen storage disease type I.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3784, doi. 10.1093/hmg/ddw224

By:

Gjorgjieva, Monika;
Raffin, Margaux;
Duchampt, Adeline;
Perry, Ariane;
Stefanutti, Anne;
Brevet, Marie;
Tortereau, Antonin;
Dubourg, Laurence;
Hubert-Buron, Aurélie;
Mabille, Mylène;
Pelissou, Coralie;
Lassalle, Louis;
Labrune, Philippe;
Mithieux, I. Gilles;
Rajas, Fabienne

Publication type:

Article

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.

Published in:

2021

By:

Chan, Yi-Chia;
Liu, Kai-Min;
Chen, Chao-Long;
Ong, Aldwin D.;
Lin, Chih-Che;
Yong, Chee-Chien;
Tsai, Pei-Chun;
Lu, Liang-Suei;
Wu, Jer-Yuarn

Publication type:

journal article

Glycogen storage disease type I in Tunisia: An epidemiological analysis.

Published in:

2008

By:

Chehida, A.;
Tebib, N.;
Cherif, W.;
Turkia, H.;
Abdelmoula, S.;
Azzouz, H.;
Ben Dridi, M.

Publication type:

Report

Glycogen storage disease types I and II: Treatment updates.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 2, p. 159, doi. 10.1007/s10545-007-0519-9

By:

Koeberl, D.;
Kishnani, P.;
Chen, Y.

Publication type:

Article

Mutation spectrum of type I glycogen storage disease in Hungary.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 939, doi. 10.1007/s10545-005-0186-7

By:

Miltenberger-Miltenyi, G.;
Szonyi, L.;
Balogh, L.;
Utermann, G.;
Janecke, A.

Publication type:

Article

Clinical evaluation of a portable lactate meter in type I glycogen storage disease.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 695, doi. 10.1007/s10545-005-0090-1

By:

Saunders, A.;
Feldman, H.;
Correia, C.;
Weinstein, D.

Publication type:

Article

Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 1

By:

J. Cabrera-Abreu;
N. J. Crabtree;
E. Elias;
W. Fraser;
R. Cramb;
S. Alger

Publication type:

Article

Intestinal function in glycogen storage disease type I.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 261, doi. 10.1023/A:1016572706488

By:

Visser, G.;
Rake, J.;
Kokke, F.;
Nikkels, P.;
Sauer, P.;
Smit, G.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 863, doi. 10.1023/A:1013996325720

By:

Hershkovitz, E.;
Rachmel, A.;
Ben-Zaken, H.;
Phillip, M.

Publication type:

Article

Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 681, doi. 10.1023/A:1012715110596

By:

Pela, I.;
Donati, M.;
Zammarchi, E.

Publication type:

Article

Metabolic control and renal dysfunction in type I glycogen storage disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 559, doi. 10.1023/A:1005346824368

By:

Wolfsdorf, J.;
Laffel, L.;
Crigler, J.

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

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

Rare Diseases.

Published in:: 2017
Publication type:: Abstract

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

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 717, doi. 10.1038/sj.ejhg.5200366

By:

Veiga-da-Cunha, Maria;
Gerin, Isabelle;
Chen, Yuan-Tsong;
Lee, Philip J;
Leonard, James V;
Maire, Irène;
Wendel, Udo;
Vikkula, Miikka;
Van Schaftingen, Emile

Publication type:

Article

THE HEMOSTATIC DEFECT IN GLYCOGEN STORAGE DISEASE, TYPE I.

Published in:

Acta Paediatrica, 1968, v. 57, n. 3, p. 205, doi. 10.1111/j.1651-2227.1968.tb04679.x

By:

Gilchrist, Gerald S.;
Fine, Richard N.;
Donnell, George N.

Publication type:

Article

Plasma and lipoprotein fatty acid composition in glycogen storage disease type I.

Published in:

Lipids, 1987, v. 22, n. 6, p. 381, doi. 10.1007/BF02537265

By:

Levy, Emile;
Letarte, Jacques;
Lepage, Guy;
Thibault, Louise;
Roy, Claude

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

Effect of continuous glucose therapy begun in infancy on the long-term clinical course of patients with type I glycogen storage disease.

Published in:

1999

By:

Wolfsdorf, Joseph I.;
Crigler Jr, John F.;
Wolfsdorf, J I;
Crigler, J F Jr

Publication type:

journal article

Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature.

Published in:

1997

By:

Labrune, Philippe;
Trioche, Pascale;
Duvaltier, Isabelle;
Chevalier, Paquita;
Odièvre, Michel;
Labrune, P;
Trioche, P;
Duvaltier, I;
Chevalier, P;
Odièvre, M

Publication type:

journal article