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Items: 1 to 20 of 94

1.
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A. Martín
Genes (Basel) 2022 Oct; 13(10): 1835. Published online 2022 Oct 11. doi: 10.3390/genes13101835
PMCID:
PMC9601687
ArticlePDF–1.6M
2.
Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan
Bushra Gul, Sabika Firasat, Tayyaba Shan, Raeesa Tehreem, Kiran Afshan
PLoS One. 2023; 18(11): e0288965. Published online 2023 Nov 30. doi: 10.1371/journal.pone.0288965
PMCID:
PMC10688888
ArticlePDF–2.0M
3.
Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease
Yongxiang Wang, Ming Bai, Piyi Zhang, Yu Peng, Zixian Chen, Zhiyu He, Jin Xu, Youqi Zhu, Dongdong Yan, Runqing Wang, Zheng Zhang
Mol Genet Genomic Med. 2023 Sep; 11(9): e2216. Published online 2023 Jun 8. doi: 10.1002/mgg3.2216
PMCID:
PMC10496070
ArticlePDF–9.6M
4.
Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos
Luz M. Sánchez-Sánchez, Valentina Martínez-Montoya, Roberto Sandoval-Pacheco, Benjamín Torres-Octavo, Diana M. Anaya-Castro, Ofelia Padilla-de la Torre, Carmen A. Arellano-Valdez, Carmen A. Ávila-Rejón, Pedro A. Aguilar-Juárez, Martín Espino-Pluma, Antonio González-Santillanes Cruz, Ekaterina Kazakova, Rosa I. Martinez-Segovia, Dorian Olmos-Morfin, Pablo F. Radillo-Díaz, Ishar Solís-Sánchez, Mónica Vázquez Del Mercado-Espinosa, Camilo E. Villarroel-Cortés, Jesús S. Velarde-Félix
Rev Neurol. 2022; 75(5): 103–108. Spanish. Published online 2022 Sep 1. doi: 10.33588/rn.7505.2022227
PMCID:
PMC10280748
ArticlePDF–812K
5.
Clinical and genetic spectrum of GSD type 6 in Korea
Jong Woo Hahn, Heerah Lee, Moon Woo Seong, Gyeong Hoon Kang, Jin Soo Moon, Jae Sung Ko
Orphanet J Rare Dis. 2023; 18: 132. Published online 2023 Jun 1. doi: 10.1186/s13023-023-02750-1
PMCID:
PMC10233917
ArticlePDF–1.7M
6.
Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland
Magdalena Kaczor, Dorota Wesół-Kucharska, Milena Greczan, Karolina Kierus, Łukasz Kałużny, Monika Duś-Żuchowska, Ewa Ehmke vel Emczyńska-Seliga, Elżbieta Ciara, Janusz Książyk, Dariusz Rokicki
Pediatr Endocrinol Diabetes Metab. 2022 Sep; 28(3): 207–212. Published online 2022 May 12. doi: 10.5114/pedm.2022.116115
PMCID:
PMC10214975
ArticlePDF–544K
7.
Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests
Stephanie J. Valberg, Marisa L. Henry, Keely L. Herrick, Deborah Velez‐Irizarry, Carrie J. Finno, Jessica L. Petersen
Equine Vet J. 2023 Mar; 55(2): 230–238. Published online 2022 Apr 1. doi: 10.1111/evj.13574
PMCID:
PMC10084132
ArticlePDF–472K
8.
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici, Arianna Maiorana
Orphanet J Rare Dis. 2022; 17: 285. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02431-5
PMCID:
PMC9295101
ArticlePDF–1.3M
9.
Broad variation in phenotypes for common GAA genotypes in Pompe disease
Monica Y. Niño, Stijn L. M. in't Groen, Douglas O. S. de Faria, Marianne Hoogeveen‐Westerveld, Hannerieke J. M. P. van den Hout, Ans T. van der Ploeg, Atze J. Bergsma, W. W. M. Pim Pijnappel
Hum Mutat. 2021 Nov; 42(11): 1461–1472. Published online 2021 Sep 8. doi: 10.1002/humu.24272
PMCID:
PMC9292902
ArticlePDF–2.3M
10.
Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy
Rebeka Roza Zsoldos, Negar Khayatzadeh, Johann Soelkner, Ulrike Schroeder, Caroline Hahn, Theresia Franziska Licka
J Anim Physiol Anim Nutr (Berl) 2021 May; 105(3): 549–557. Published online 2021 Feb 20. doi: 10.1111/jpn.13504
PMCID:
PMC9291294
ArticlePDF–1.0M
11.
Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies
Araceli Aguilar-González, Juan Elías González-Correa, Eliana Barriocanal-Casado, Iris Ramos-Hernández, Miguel A. Lerma-Juárez, Sara Greco, Juan José Rodríguez-Sevilla, Francisco Javier Molina-Estévez, Valle Montalvo-Romeral, Giuseppe Ronzitti, Rosario María Sánchez-Martín, Francisco Martín, Pilar Muñoz
Int J Mol Sci. 2022 Jun; 23(11): 6298. Published online 2022 Jun 4. doi: 10.3390/ijms23116298
PMCID:
PMC9181599
ArticlePDF–1.8M
12.
Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey
S. Kilavuz, D. Kor, F.D. Bulut, M. Serbes, D. Karagoz, D.U. Altıntas, A. Bisgin, G. Seydaoğlu, H.N.O. Mungan
Arch Pediatr. 2022 Aug; 29(6): 415–423. Published online 2022 May 23. doi: 10.1016/j.arcped.2022.05.003
PMCID:
PMC9125140
ArticlePDF–609K
13.
Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature
Xiaoli Pan, Yuan Yuan, Bangcui Wu, Wendan Zheng, Mei Tian
J Int Med Res. 2022 Mar; 50(3): 03000605221084873. Published online 2022 Mar 17. doi: 10.1177/03000605221084873
PMCID:
PMC8943314
ArticlePDF–489K
14.
Features of chinese patients with sitosterolemia
Zhizi Zhou, Xueying Su, Yanna Cai, Tzer Hwu Ting, Wen Zhang, Yunting Lin, Aijing Xu, Xiaojian Mao, Chunhua Zeng, Li Liu, Xiuzhen Li
Lipids Health Dis. 2022; 21: 11. Published online 2022 Jan 18. doi: 10.1186/s12944-021-01619-1
PMCID:
PMC8764812
ArticlePDF–817K
15.
Current status of newborn screening for Pompe disease in Japan
Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura
Orphanet J Rare Dis. 2021; 16: 516. Published online 2021 Dec 18. doi: 10.1186/s13023-021-02146-z
PMCID:
PMC8684119
ArticlePDF–1.0M
16.
Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation
YOGIK ONKY SILVANA WIJAYA, EMMA TABE EKO NIBA, RYO YABUSHITA, YOSHIHIRO BOUIKE, HISAHIDE NISHIO, HIROYUKI AWANO
Kobe J Med Sci. 2021; 67(2): E71–E78. Published online 2021 Nov 2.
PMCID:
PMC8622217
ArticlePDF–639K
17.
Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants
Sarah C. Grünert, Anke Schumann, Federico Baronio, Konstantinos Tsiakas, Simona Murko, Ute Spiekerkoetter, René Santer
Genes (Basel) 2021 Nov; 12(11): 1785. Published online 2021 Nov 10. doi: 10.3390/genes12111785
PMCID:
PMC8622088
ArticlePDF–378K
18.
Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291–1329 CE) indicates the first known case of late-onset Pompe disease
Barbara Iadarola, Denise Lavezzari, Alessandra Modi, Chiara Degli Esposti, Cristina Beltrami, Marzia Rossato, Valentina Zaro, Ettore Napione, Leonardo Latella, Martina Lari, David Caramelli, Alessandro Salviati, Massimo Delledonne
Sci Rep. 2021; 11: 21070. Published online 2021 Oct 26. doi: 10.1038/s41598-021-00559-1
PMCID:
PMC8548527
ArticlePDF–1012K
19.
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah, Louise Denvir, Katja Dumic, Artur Bossowski, Talat Mushtaq, Rade Vukovic, Mohamed Didi, Nick Shaw, Louise A Metherell, Martin O Savage, Helen L Storr
J Clin Endocrinol Metab. 2021 Nov; 106(11): e4716–e4733. Published online 2021 Jun 16. doi: 10.1210/clinem/dgab437
PMCID:
PMC8530715
Article
20.
Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies
Jennifer Zhang, Oscar Hou-In Chou, Yiu-Lam Tse, Kwong-Man Ng, Hung-Fat Tse
Int J Mol Sci. 2021 Aug; 22(15): 8132. Published online 2021 Jul 29. doi: 10.3390/ijms22158132
PMCID:
PMC8347533
ArticlePDF–3.2M

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