Works matching Von Gierke disease

Results: 42

Orthotopic Liver Transplantation in Glucose-6-phosphatase Deficiency - von Gierke Disease - with Multiple Hepatic Adenomas and Concomitant Focal Nodular Hyperplasia.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 4, p. 545, doi. 10.1515/jpem.2007.20.4.545

By:

Carreiro, Gerson;
Villela-Nogueira, Cristiane A.;
Coelho, Henrique Sergio M.;
Basto, Samanta;
Pannain, Vera Lucia;
Caroli-Bottino, Adriana;
Filho, Joaquim Ribeiro

Publication type:

Article

CT scan diagnosis of hepatic adenoma in a case of von Gierke disease.

Published in:

Indian Journal of Radiology & Imaging, 2012, v. 22, n. 1, p. 54, doi. 10.4103/0971-3026.95405

By:

Daga, Bipin Valchandji;
Shah, Vaibhav R.;
More, Rahul B.

Publication type:

Article

Profile of Patients With Von Gierke Disease From India.

Published in:

Indian Pediatrics, 2012, v. 49, n. 3, p. 228, doi. 10.1007/s13312-012-0056-y

By:

Tamhankar, Parag M.;
Boggula, Vijayraju;
Girisha, K. M.;
Phadke, Shubha R

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

Von Gierke's Disease Adopts an Orphan (and Its Partner).

Published in:

Science Signaling, 2009, v. 2, n. 58, p. 1, doi. 10.1126/scisignal.258pe8

By:

Cheng, Alan;
Saltiel, Alan R.

Publication type:

Article

Blood Glucose-6-Phosphate in Heterozygous Carriers and Patients with Liver Glycogen Disease (Von Gierke's Disease).

Published in:

Nature, 1961, v. 192, n. 4799, p. 265, doi. 10.1038/192265b0

By:

SOKAL, JOSEPH E.;
FLEISSNER, SYLVIA;
SARCIONE, EDWARD J.;
LOWE, CHARLES U.

Publication type:

Article

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L

By:

Rocha, Hugo;
Cabral, Aguinaldo;
Vilarinho, Laura

Publication type:

Article

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M

By:

Wu, Mei-Chen;
Tsai, Fuu-jen;
Lee, Cheng-Chun;
Tsai, Chang-Hai;
Wu, Jer-Yuarn

Publication type:

Article

Focal neuronal dysfunction resulting in subclinical status epilepticus in von gierke's disease.

Published in:

2015

By:

Lerner, David P.;
Dombrowski, Keith

Publication type:

Case Study

Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 527, doi. 10.1023/A:1012407609063

By:

Wierzbicki, A.;
Watts, G.;
Lynas, J.;
Winder, A.;
Wray, R.

Publication type:

Article

Blood Glucose-6-Phosphate in Heterozygous Carriers and Patients with Liver Glycogen Disease (Von Gierke's Disease).

Published in:

Nature, 1961, v. 192, n. 4799, p. 266, doi. 10.1038/192266a0

By:

HSIA, DAVID YI-YUNG

Publication type:

Article

Detection of Heterozygous Carriers in Glycogen Storage Disease of the Liver (von Gierke's Disease).

Published in:

Nature, 1959, v. 183, n. 4671, p. 1331, doi. 10.1038/1831331a0

By:

HSIA, DAVID YI-YUNG;
KOT, EVA GAWRONSKA

Publication type:

Article

Anaesthesia in Von Gierke's disease. Current approach to management.

Published in:

1980

By:

Bevan, J C

Publication type:

journal article

Anaesthesia in Von Gierke's disease.

Published in:

Anaesthesia, 1980, v. 35, n. 7, p. 699, doi. 10.1111/j.1365-2044.1980.tb03884.x

By:

BEVAN, JOAN C.

Publication type:

Article

Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 390, doi. 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU32>3.0.CO;2-N

By:

Wu, Mei-Chen;
Tsai, Fuu-Jen;
Le, Cheng-Chun;
Lin, Shuan-Pei;
Wu, Jer-Yuarn

Publication type:

Article

Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU17>3.0.CO;2-5

By:

Ko, Tsang-Ming;
Liang, Zhi-Cheng;
Lin, Yu-Wan;
Hwu, Wuh-Liang

Publication type:

Article

Effects of diazoxide administration on plasma glucose, insulin, and lipids in Von Gierke's disease.

Published in:

1966

By:

Spergel, Gabriel;
Bleicher, Sheldon J.;
Spergel, G;
Bleicher, S J

Publication type:

journal article

Glycogen Storage Disease in Pediatric Population.

Published in:

Egyptian Journal of Hospital Medicine, 2018, v. 70, n. 12, p. 2067, doi. 10.12816/0045030

By:

Mofarih Assiri, Yara;
Mohammed Iqbal, Marium;
Ali Almanie, Reem;
Eed Alotaibi, Atheer;
Alharbi, Abdullah S.;
Al Jobran, Bayan Sultan;
Abbag, Huda F.;
Almoghrabi, Mohammed Younes;
Jarad, Fahad Abdulaziz;
Asiri, Ashwaq Y.;
Alotaibi, Mohammad Abdullah;
Alshammari, Wejdan Hamed;
Mohammed Alenezi, Hadil;
Abdrabalameer Alghafli, Badoor;
Tobaigi, Saad Mahmoud;
AlJuhani, Amro Sulaiman;
Bajoaifur, Maram Mohammed;
Al Ansari, Emtenan

Publication type:

Article

Glycogen Storage Disease in Pediatric Population.

Published in:

Egyptian Journal of Hospital Medicine, 2018, v. 70, n. 9, p. 1539, doi. 10.12816/0044680

By:

Assiri, Yara Mofarih;
Iqbal, Marium Mohammed;
Almanie, Reem Ali;
Alotaibi, Atheer Eed;
Alharbi, Faris Abdullah S.;
Al Jobran, Bayan Sultan;
Abbag, Huda F.;
Almoghrabi, Mohammed Younes;
Jarad, Fahad Abdulaziz;
Asiri, Ashwaq Y.;
Alotaibi, Mohammad Abdullah;
Alshammari, Wejdan Hamed;
Alenezi, Hadil Mohammed;
Alghafli, Badoor Abdrabalameer;
Tobaigi, Saad Mahmoud;
AlJuhani, Amro Sulaiman;
Bajoaifur, Maram Mohammed;
Al Ansari, Emtenan

Publication type:

Article

糖原代谢中糖噬的作用及调控机制.

Published in:

Chinese Journal of Tissue Engineering Research / Zhongguo Zuzhi Gongcheng Yanjiu, 2022, v. 26, n. 20, p. 3243, doi. 10.12307/2022.628

By:

吕毓虎;
程林;
林文弢;
彭峰林

Publication type:

Article

A Rare Case of Hyperlactatemia in The Emergency Department.

Published in:

Journal of Academic Emergency Medicine Case Reports / Akademik Acil Tip Olgu Sunumlari Dergisi, 2022, v. 13, n. 1, p. 29, doi. 10.33706/jemcr.1003145

By:

Stumpf, Matheo Augusto Morandi;
Lima Simões, Ademar;
Garcia de Alencar, Júlio César

Publication type:

Article

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

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

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

Long‐term outcome after liver transplantation in children with type 1 glycogen storage disease.

Published in:

Pediatric Transplantation, 2021, v. 25, n. 2, p. 1, doi. 10.1111/petr.13872

By:

Yuen, Wing Yan;
Quak, Seng Hock;
Aw, Marion M.;
Karthik, Sivaramakrishnan Venkatesh

Publication type:

Article

A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.

Published in:

Thyroid, 2019, v. 29, n. 8, p. 1158, doi. 10.1089/thy.2019.0007

By:

Zhou, Jin;
Waskowicz, Lauren R.;
Lim, Andrea;
Liao, Xiao-Hui;
Lian, Brian;
Masamune, Hiroko;
Refetoff, Samuel;
Tran, Brian;
Koeberl, Dwight D.;
Yen, Paul M.

Publication type:

Article

Hepatic adenomatosis in glycogen storage disease type ia.

Published in:

2003

By:

Volmar KE;
Burchette JL;
Creager AJ

Publication type:

Journal Article

Hepatic Adenomatosis in Glycogen Storage Disease Type Ia.

Published in:

Archives of Pathology & Laboratory Medicine, 2003, v. 127, n. 10, p. e402, doi. 10.5858/2003-127-e402-haigsd

By:

Volmar, Keith E.;
Burchette, James L.;
Creager, Andrew J.

Publication type:

Article

MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia.

Published in:

Prenatal Diagnosis, 1996, v. 16, n. 4, p. 333, doi. 10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G

By:

QU, YONG;
ABDENUR, JOSE E.;
ENG, CHRISTINE M.;
DESNICK, ROBERT J.

Publication type:

Article

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 143, doi. 10.1093/hmg/ddy343

By:

Waskowicz, Lauren R;
Zhou, Jin;
Landau, Dustin J;
Brooks, Elizabeth D;
Lim, Andrea;
Yavarow, Zollie A;
Kudo, Tsubasa;
Zhang, Haoyue;
Wu, Yajun;
Grant, Stuart;
Young, Sarah P;
Huat, Bay Boon;
Yen, Paul M;
Koeberl, Dwight D

Publication type:

Article

Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa).

Published in:

Scientific Reports, 2017, p. 44408, doi. 10.1038/srep44408

By:

Farah, Benjamin L.;
Sinha, Rohit A.;
Wu, Yajun;
Singh, Brijesh K.;
Lim, Andrea;
Hirayama, Masahiro;
Landau, Dustin J.;
Bay, Boon Huat;
Koeberl, Dwight D.;
Yen, Paul M.

Publication type:

Article

CASE REPORT: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.

Published in:

Journal of Gastroenterology & Hepatology, 1999, v. 14, n. 6, p. 553, doi. 10.1046/j.1440-1746.1999.01914.x

By:

Nakamura, Toshifumi;
Ozawa, Takachika;
Kawasaki, Tsunehisa;
Yasumi, Kazuhiko;
Wang, Dong-Yu;
Kitagawa, Mutsuo;
Takehira, Yasunori;
Tamakoshi, Katsutoshi;
Yamada, Masami;
Kida, Hideo;
Sugie, Hideo;
Nakamura, Hirotoshi;
Sugimura, Haruhiko

Publication type:

Article

Glucose-6-phosphatase deficiency.

Published in:

2011

By:

Froissart, Roseline;
Piraud, Monique;
Boudjemline, Alix Mollet;
Vianey-Saban, Christine;
Petit, François;
Hubert-Buron, Aurélie;
Eberschweiler, Pascale Trioche;
Gajdos, Vincent;
Labrune, Philippe

Publication type:

journal article

Glucose-6-phosphatase deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 27, doi. 10.1186/1750-1172-6-27

By:

Froissart, Roseline;
Piraud, Monique;
Boudjemline, Alix Mollet;
Vianey-Saban, Christine;
Petit, François;
Hubert-Buron, Aurélie;
Eberschweiler, Pascale Trioche;
Gajdos, Vincent;
Labrune, Philippe

Publication type:

Article

Hepatocyte Nuclear Factor 1α Is an Accessory Factor Required for Activation of Glucose-6-Phosphatase Gene Transcription by Glucocorticoids.

Published in:

DNA & Cell Biology, 1998, v. 17, n. 11, p. 967, doi. 10.1089/dna.1998.17.967

By:

LIN, BAOCHUAN;
MORRIS, DAVID W.;
CHOU, JANICE YANG

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

Neonatal Gene Therapy of Glycogen Storage Disease Type Ia Using a Feline Immunodeficiency Virus–based Vector.

Published in:

Molecular Therapy, 2010, v. 18, n. 9, p. 1592, doi. 10.1038/mt.2010.119

By:

Grinshpun, Albert;
Condiotti, Reba;
N Waddington, Simon;
Peer, Michael;
Zeig, Eli;
Peretz, Sima;
Simerzin, Alina;
Chou, Janice;
Chi-Jiunn Pann;
Giladi, Hilla;
Galun, Eithan

Publication type:

Article

Efficacy of Helper-dependent Adenovirus Vector-mediated Gene Therapy in Murine Glycogen Storage Disease Type Ia.

Published in:

Molecular Therapy, 2007, v. 15, n. 7, p. 1253, doi. 10.1038/sj.mt.6300188

By:

Koeberl, Dwight D.;
Sun, B.;
Bird, A.;
Chen, Y. T.;
Oka, K.;
Chan, L.

Publication type:

Article

211. Development of Helper-Dependent Adenovirus (HDAd) Vectors for Gene Therapy in the Mouse Model for Glycogen Storage Disease Type Ia (GSD-Ia).

Published in:

Molecular Therapy, 2006, v. 13, p. S81, doi. 10.1016/j.ymthe.2006.08.236

By:

Koeberl, Dwight D.;
Banerjee, Lopamudra;
Sun, Baodong;
Bird, Andrew;
Chen, Y.T.;
Hiro, Kazuhiro;
Chan, Lawrence

Publication type:

Article

Dental findings in a child with glycogen storage disease type IA.

Published in:

Quintessence International, 2007, v. 38, n. 1, p. e36

By:

Avsar, Aysun

Publication type:

Article

Glycogen storage disease: report of two cases in the city of Cartagena.

Published in:

2010

By:

Alvear CC;
Barboza M;
Rodríguez ZK

Publication type:

Journal Article

Glycogen storage disease: report of two cases in the city of Cartagena.

Published in:

2010

By:

ALVEAR, CIRO C.;
BARBOZA, MIRIAM;
RODRÍGUEZ, ZEUDY K.

Publication type:

Case Study