PMC Articles for MedGen (Select 374996) - PMC

Select item 65389451.

A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations

Meili Wei, Aiqin Han, Liping Wei, Liji Ma

Front Pediatr. 2019; 7: 201. Published online 2019 May 22. doi: 10.3389/fped.2019.00201

PMCID:: PMC6538945

Select item 59666892.

Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia

Ekta Bhutada, Timothy Pyragius, Scott G. Petersen, Frans Niemann, Admire Matsika

Case Rep Pathol. 2018; 2018: 2549451. Published online 2018 May 9. doi: 10.1155/2018/2549451

PMCID:: PMC5966689

Abstract Article PDF–2.1M

Select item 45467193.

Perinatal-lethal Gaucher disease presenting as hydrops fetalis

Emira BenHamida, Imene Ayadi, Ines Ouertani, Maroua Chammem, Ahlem Bezzine, Riadh BenTmime, Leila Attia, Ridha Mrad, Zahra Marrakchi

Pan Afr Med J. 2015; 21: 110. Published online 2015 Jun 10. doi: 10.11604/pamj.2015.21.110.7052

PMCID:: PMC4546719

Abstract Article PDF–409K

Select item 104478784.

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple

Talib Al Harthy, Samantha Colaiacovo, Robert J. Gratton, Kevin Coughlin, Victoria Mok Siu, Chitra Prasad, Charles Rupar, Maha Saleh

Clin Case Rep. 2023 Aug; 11(8): e7827. Published online 2023 Aug 23. doi: 10.1002/ccr3.7827

PMCID:: PMC10447878

Abstract Article PDF–1.3M

Select item 85850015.

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases

Aleksandra Jezela-Stanek, Grazina Kleinotiene, Karolina Chwialkowska, Anna Tylki-Szymańska

J Clin Med. 2021 Nov; 10(21): 4890. Published online 2021 Oct 23. doi: 10.3390/jcm10214890

PMCID:: PMC8585001

Abstract Article PDF–240K

Select item 35099096.

Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease

Abdallah F. Elias, Maria Ronningen Johnson, John K. Boitnott, David Valle

JIMD Rep. 2012; 5: 95–98. Published online 2011 Dec 11. doi: 10.1007/8904_2011_104

PMCID:: PMC3509909

Abstract Article PDF–215K

Select item 61307997.

Fetal gene therapy for neurodegenerative disease of infants

Giulia Massaro, Citra N.Z. Mattar, Andrew M.S. Wong, Ernestas Sirka, Suzanne M.K. Buckley, Bronwen R. Herbert, Stefan Karlsson, Dany P. Perocheau, Derek Burke, Simon Heales, Angela Richard-Londt, Sebastian Brandner, Mylene Huebecker, David A. Priestman, Frances M. Platt, Kevin Mills, Arijit Biswas, Jonathan D. Cooper, Jerry K.Y. Chan, Seng H. Cheng, Simon N. Waddington, Ahad A. Rahim

Nat Med. Author manuscript; available in PMC 2019 Jan 16.

Published in final edited form as: Nat Med. 2018 Sep; 24(9): 1317–1323. Published online 2018 Jul 16. doi: 10.1038/s41591-018-0106-7

PMCID:: PMC6130799

Article PDF–2.0M

Select item 46071128.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

David A. Zeevi, Gheona Altarescu, Ariella Weinberg-Shukron, Fouad Zahdeh, Tama Dinur, Gaya Chicco, Yair Herskovitz, Paul Renbaum, Deborah Elstein, Ephrat Levy-Lahad, Arndt Rolfs, Ari Zimran

J Clin Invest. 2015 Oct 1; 125(10): 3757–3765. Published online 2015 Aug 31. doi: 10.1172/JCI79322

PMCID:: PMC4607112

Abstract Article PDF–958K

Select item 27299009.

Upregulation of Proinflammatory Cytokines in the Fetal Brain of the Gaucher Mouse

Young Bin Hong, Eun Young Kim, Sung-Chul Jung

J Korean Med Sci. 2006 Aug; 21(4): 733–738. Published online 2006 Aug 22. doi: 10.3346/jkms.2006.21.4.733

PMCID:: PMC2729900

Abstract Article PDF–126K

Select item 172105310.

Type 2 Gaucher disease: the collodion baby phenotype revisited

D Stone, W Carey, J Christodoulou, D Sillence, P Nelson, M Callahan, N Tayebi, E Sidransky

Arch Dis Child Fetal Neonatal Ed. 2000 Mar; 82(2): F163–F166. doi: 10.1136/fn.82.2.F163

PMCID:: PMC1721053

Summary PDF–112K

Select item 168557611.

In utero diagnosis of Gaucher disease.

T Kitagawa, M Owada, T Sakiyama, K Aoki, S Kamoshita, Y Amenomori, T Kobayashi

Am J Hum Genet. 1978 May; 30(3): 322–327.

PMCID:: PMC1685576

Summary Page Browse PDF–449K

Select item 137805912.

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

V Koprivica, D L Stone, J K Park, M Callahan, A Frisch, I J Cohen, N Tayebi, E Sidransky

Am J Hum Genet. 2000 Jun; 66(6): 1777–1786. Published online 2000 May 4. doi: 10.1086/302925

PMCID:: PMC1378059

Summary PDF–413K

Select item 105183913.

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

E Sidransky, N Tayebi, B K Stubblefield, W Eliason, A Klineburgess, G P Pizzolato, J N Cox, J Porta, A Bottani, C D DeLozier-Blanchet

J Med Genet. 1996 Feb; 33(2): 132–136. doi: 10.1136/jmg.33.2.132

PMCID:: PMC1051839

Summary Page Browse PDF–1.7M

Select item 40814214.

Non–pseudogene-derived complex acid β-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease

Marie E. Grace, Patricia Ashton-Prolla, Gregory M. Pastores, Agnes Soni, Robert J. Desnick

J Clin Invest. 1999 Mar 15; 103(6): 817–823. doi: 10.1172/JCI5168

PMCID:: PMC408142

Abstract Article PDF–262K

Select item 4198115.

Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.

P Bornstein, C E McKinney, M E LaMarca, S Winfield, T Shingu, S Devarayalu, H L Vos, E I Ginns

Proc Natl Acad Sci U S A. 1995 May 9; 92(10): 4547–4551. doi: 10.1073/pnas.92.10.4547

PMCID:: PMC41981

Summary Page Browse PDF–1.3M

Select item 156426216.

Effective cell and gene therapy in a murine model of Gaucher disease

Ida Berglin Enquist, Eva Nilsson, Andreas Ooka, Jan-Eric Månsson, Karin Olsson, Mats Ehinger, Roscoe O. Brady, Johan Richter, Stefan Karlsson

Proc Natl Acad Sci U S A. 2006 Sep 12; 103(37): 13819–13824. Published online 2006 Sep 5. doi: 10.1073/pnas.0606016103

PMCID:: PMC1564262

Abstract Article PDF–1.2M

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