Works matching DE "TAY-Sachs disease"

Results: 184

Production of human β-hexosaminidase A with highly phosphorylated N-glycans by the overexpression of the Ogataea minuta MNN4 gene.

Published in:

Glycobiology, 2009, v. 19, n. 9, p. 1002, doi. 10.1093/glycob/cwp080

By:

Akeboshi, Hiromi;
Kasahara, Yoshiko;
Tsuji, Daisuke;
Itoh, Kohji;
Sakuraba, Hitoshi;
Chiba, Yasunori;
Jigami, Yoshifumi

Publication type:

Article

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 12, doi. 10.4274/jpr.87609

By:

Er, Esra;
Canda, Ebru;
Yazıcı, Havva;
Eraslan, Cenk;
Sözmen, Eser;
Uçar, Sema Kalkan;
Çoker, Mahmut

Publication type:

Article

THE CHANGING LANDSCAPE OF CARRIER SCREENING: EXPANDING TECHNOLOGY AND OPTIONS?

Published in:

Health Matrix: Journal of Law-Medicine, 2013, v. 23, n. 1, p. 15

By:

McGowan, Michelle L.;
Cho, Deborah;
Sharp, Richard R.

Publication type:

Article

The Tay-Sachs disease screening program in the U.S. as a model for the control of genetic disease...

Published in:

Health Matrix: Journal of Law-Medicine, 1997, v. 7, n. 1, p. 125

By:

Edelson, Paul J.

Publication type:

Article

Ashkenazi Jewish population screening for Tay- Sachs disease: The International and Australian experience.

Published in:

Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 271, doi. 10.1111/jpc.12632

By:

Lew, Raelia M;
Burnett, Leslie;
Proos, Anné L;
Barlow‐Stewart, Kristine;
Delatycki, Martin B;
Bankier, Agnes;
Aizenberg, Harry;
Field, Michael J;
Berman, Yemima;
Fleischer, Ronald;
Fietz, Michael

Publication type:

Article

A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand.

Published in:

Neurology Asia, 2016, v. 21, n. 3, p. 281

By:

Boonyawat, Boonchai;
Phetthong, Tim;
Nabangchang, Charcrin;
Suwanpakdee, Piradee

Publication type:

Article

Emerging Technologies and Their Impact on Disability.

Published in:

Future of Children, 2012, v. 22, n. 1, p. 169, doi. 10.1353/foc.2012.0002

By:

Wise, Paul H.

Publication type:

Article

[sup 31]Phosphorus Magnetic Resonance Spectroscopy in Late-Onset Tay-Sachs Disease.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 5, p. 377, doi. 10.1177/088307380101600514

By:

Felderhoff-Mueser, Ursula;
Sperner, Jurgen;
Konstanzcak, Paul;
Navon, Ruth;
Weschke, Bernhard

Publication type:

Article

Beta-Galactosidase Gene Mutations in Patients With Slowly Progressive G[sub M1] Gangliosidosis.

Published in:

Journal of Child Neurology, 1997, v. 12, n. 4, p. 242, doi. 10.1177/088307389701200404

By:

Kaye, Edward M.;
Shalish, Christo;
Livermore, James;
Taylor, Harold A.;
Stevenson, Roger E.;
Breakefield, Xandra O.

Publication type:

Article

The politics of 'wrongful life' itself: discursive (mal)practices and Tay-Sachs disease.

Published in:

Economy & Society, 2007, v. 36, n. 2, p. 236, doi. 10.1080/03085140701254290

By:

Reuter, Shelley Z.

Publication type:

Article

Testing fate: Tay-Sachs disease and the right to be responsible.

Published in:

2018

By:

Sillo, Christie

Publication type:

Book Review

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease).

Published in:

2020

By:

Davies, Elin Haf;
Johnston, Jean;
Toro, Camilo;
Tifft, Cynthia J.

Publication type:

journal article

Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy.

Published in:

2016

By:

Liguori, M.;
Tagarelli, G.;
Romeo, N.;
Bagalà, A.;
Spadafora, Patrizia;
Bagalà, A

Publication type:

Case Study

Co-Creating Caring Science-Based Interprofessional Simulation Through the Living Experience.

Published in:

International Journal for Human Caring, 2022, v. 26, n. 1, p. 31, doi. 10.1891/HumanCaring-D-21-00001

By:

France, Nancey E.M.;
Kaye, Suzie;
Smith, Marlaine

Publication type:

Article

Late onset GM2 gangliosidosis presenting with motor neuron disease: An autopsy case.

Published in:

Neuropathology, 2014, v. 34, n. 3, p. 304, doi. 10.1111/neup.12088

By:

Yokoyama, Teruo;
Nakamura, Seigo;
Horiuchi, Emiko;
Ishiyama, Miyako;
Kawashima, Rei;
Nakamura, Kazuo;
Hasegawa, Kazuko;
Yagishita, Saburo

Publication type:

Article

Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots.

Published in:

British Journal of Dermatology, 1981, v. 104, n. 2, p. 195, doi. 10.1111/j.1365-2133.1981.tb00045.x

By:

Weissbluth, Marc;
Esterly, Nancy B.;
Caro, William A.

Publication type:

Article

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 611, doi. 10.1038/jhg.2013.68

By:

Yasui, Naoko;
Takaoka, Yutaka;
Nishio, Hisahide;
Nurputra, Dian K;
Sekiguchi, Kenji;
Hamaguchi, Hirotoshi;
Kowa, Hisatomo;
Maeda, Eiichi;
Sugano, Aki;
Miura, Kenji;
Sakaeda, Toshiyuki;
Kanda, Fumio;
Toda, Tatsushi

Publication type:

Article

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 682, doi. 10.1038/jhg.2011.78

By:

Haghighi, Alireza;
Rezazadeh, Jamileh;
Shadmehri, Azam Ahmadi;
Haghighi, Amirreza;
Kornreich, Ruth;
Desnick, Robert J

Publication type:

Article

Structural bases of GM1 gangliosidosis and Morquio B disease.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 9, p. 510, doi. 10.1038/jhg.2009.70

By:

Morita, Mizuki;
Saito, Seiji;
Ikeda, Kazuyoshi;
Ohno, Kazuki;
Sugawara, Kanako;
Suzuki, Toshihiro;
Togawa, Tadayasu;
Sakuraba, Hitoshi

Publication type:

Article

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 571, doi. 10.1007/s10038-003-0080-9

By:

Tanaka, Akemi;
Lan Thi Ngcok Hoang, Akemi;
Nishi, Yasuaki;
Maniwa, Satoshi;
Oka, Makio;
Yamano, Tsunekazu

Publication type:

Article

Structural basis of the GM2 gangliosidosis B variant.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 582, doi. 10.1007/s10038-003-0082-7

By:

Matsuzawa, Fumiko;
Aikawa, Sei-ichi;
Sakuraba, Hitoshi;
Hoang Thi Ngoc Lan, Hitoshi;
Tanaka, Akemi;
Ohno, Kousaku;
Sugimoto, Yuko;
Ninomiya, Haruaki;
Doi, Hirofumi

Publication type:

Article

Molecular and structural studies of the GM2 gangliosidosis 0 variant.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 4, p. 176, doi. 10.1007/s100380200020

By:

Sakuraba, H.;
Matsuzawa, F.;
Aikawa, S.;
Doi, H.;
Kotani, M.;
Lin, H.;
Ohno, K.;
Tanaka, A.;
Yamada, H.;
Uyama, E.

Publication type:

Article

Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 91, doi. 10.1007/s100380050116

By:

Tanaka, A.;
Fujimaru, Mutsuko;
Choeh, Kyuchul;
Isshiki, Gen

Publication type:

Article

Choroidal Coloboma in a Case of Tay-Sachs Disease.

Published in:

2014

By:

Ahmed, Nasreen Raees;
Tripathy, Koushik;
Kumar, Vivek;
Gogia, Varun

Publication type:

Case Study

Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200176

By:

Peleg, L;
Frisch, A;
Goldman, B;
Karpaty, M;
Narinsky, R;
Bronstein, S;
Frydman, M

Publication type:

Article

Testing Fate: Tay-Sachs Disease and the Right to be Responsible.

Published in:

Sociology of Health & Illness, 2017, v. 39, n. 5, p. 801, doi. 10.1111/1467-9566.12572

By:

Johnson, Katherine M.

Publication type:

Article

Modulation of chymase-mediated rat serosal mast cell degranulation by trypsin or diisopropyl fluorophosphate.

Published in:

Immunology, 1989, v. 66, n. 3, p. 434

By:

Schick, B.;
Austen, K. F.

Publication type:

Article

Lending a helping hand, screening chemical libraries for compounds that enhance β-hexosaminidase A activity in GM2 gangliosidosis cells.

Published in:

FEBS Journal, 2007, v. 274, n. 19, p. 4951, doi. 10.1111/j.1742-4658.2007.06040.x

By:

Tropak, Michael B.;
Mahuran, Don

Publication type:

Article

Introduction: Pharmacological chaperone therapy for lysosomal storage disorders – leveraging aspects of the folding pathway to maximize activity of misfolded mutant proteins.

Published in:

FEBS Journal, 2007, v. 274, n. 19, p. 4943, doi. 10.1111/j.1742-4658.2007.06043.x

By:

Jian-Qiang Fan

Publication type:

Article

The enzyme-binding region of human GM2-activator protein.

Published in:

FEBS Journal, 2006, v. 273, n. 5, p. 982, doi. 10.1111/j.1742-4658.2006.05126.x

By:

Wendeler, Michaela;
Werth, Norbert;
Maier, Timm;
Schwarzmann, Guenter;
Kolter, Thomas;
Schoeniger, Maike;
Hoffmann, Daniel;
Lemm, Thorsten;
Saenger, Wolfram;
Sandhoff, Konrad

Publication type:

Article

Characterization of Inducible Models of Tay-Sachs and Related Disease.

Published in:

PLoS Genetics, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.pgen.1002943

By:

Sargeant, Timothy J.;
Drage, Deborah J.;
Wang, Susan;
Apostolakis, Apostolos A.;
Cox, Timothy M.;
Cachón-González, M. Begoña

Publication type:

Article

Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.

Published in:

Journal of Clinical Investigation, 2016, v. 126, n. 5, p. 1691, doi. 10.1172/JCI85300

By:

Keisuke Kitakaze;
Yasumichi Mizutani;
Eiji Sugiyama;
Chikako Tasaki;
Daisuke Tsuji;
Nobuo Maita;
Takatsugu Hirokawa;
Daisuke Asanuma;
Mako Kamiya;
Kohei Sato;
Mitsutoshi Setou;
Yasuteru Urano;
Tadayasu Togawa;
Akira Otaka;
Hitoshi Sakuraba;
Kohji Itoh

Publication type:

Article

Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.

Published in:

Journal of Feline Medicine & Surgery, 2012, v. 14, n. 12, p. 900, doi. 10.1177/1098612X12454120

By:

Uddin, Mohammad M;
Tanimoto, Takeshi;
Yabuki, Akira;
Kotani, Takao;
Kuwamura, Mitsuru;
Chang, Hye-Sook;
Yamato, Osamu

Publication type:

Article

Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat

Published in:

Journal of Feline Medicine & Surgery, 2007, v. 9, n. 3, p. 232, doi. 10.1016/j.jfms.2006.11.003

By:

Hasegawa, Daisuke;
Yamato, Osamu;
Kobayashi, Masanori;
Fujita, Michio;
Nakamura, Shinichiro;
Takahashi, Kimimasa;
Satoh, Hiroyuki;
Shoda, Toru;
Hayashi, Daisuke;
Yamasaki, Masahiro;
Maede, Yoshimitsu;
Arai, Toshiro;
Orima, Hiromitsu

Publication type:

Article

Use and design of genetic screening programmes--a study.

Published in:

Journal of Biological Education (Society of Biology), 1998, v. 32, n. 2, p. 97, doi. 10.1080/00219266.1998.9655604

By:

Sullivan, Helen O'

Publication type:

Article

PLATFORM PRESENTATIONS: NERVE AND MUSCLE.

Published in:: 2006
Publication type:: Abstract

Kazanılmış Becerilerin Kaybı ile Başvuran İki GM2 Gangliosidoz Vakası.

Published in:

Journal of the Child / Çocuk Dergisi, 2011, v. 11, n. 2, p. 94, doi. 10.5222/j.child.2011.094

By:

Ekici, Bariş;
Koyun, Seher;
Çalişkan, Mine

Publication type:

Article

Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis.

Published in:

Molecular Biology International, 2012, p. 1, doi. 10.1155/2012/797342

By:

Altarescu, Gheona;
Beeri, Rachel;
Eiges, Rachel;
Epsztejn-Litman, Silvina;
Eldar-Geva, Talia;
Elstein, Deborah;
Zimran, Ari;
Margalioth, Ehud J.;
Levy-Lahad, Ephrat;
Renbaum, Paul

Publication type:

Article

Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.

Published in:

Acta Neurologica Scandinavica, 2002, v. 105, n. 6, p. 427, doi. 10.1034/j.1600-0404.2002.01097.x

By:

Utsumi, K;
Tsuji, A;
Kase, R;
Tanaka, A;
Tanaka, T;
Uyama, E;
Ozawa, T;
Sakuraba, H;
Komaba, Y;
Kawabe, M;
Iino, Y;
Katayama, Y

Publication type:

Article

Testing Fate: Tay-Sachs Disease and the Right to be Responsible.

Published in:

2017

By:

Braun, Lundy

Publication type:

Book Review

Pathology of GM2 Gangliosidosis in Jacob Sheep.

Published in:

Veterinary Pathology, 2011, v. 48, n. 4, p. 807, doi. 10.1177/0300985810388522

By:

Porter, B. F.;
Lewis, B. C.;
Edwards, J. F.;
Alroy, J.;
Zeng, B. J.;
Torres, P. A.;
Bretzlaff, K. N.;
Kolodny, E. H.

Publication type:

Article

Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the <italic>HEXB G</italic>ene.

Published in:

Journal of Veterinary Internal Medicine, 2018, v. 32, n. 1, p. 340, doi. 10.1111/jvim.14862

By:

Wang, P.;
Henthorn, P. S.;
Lin, G.;
Takedai, T.;
Casal, M.;
Galban, E.

Publication type:

Article

GM2 Gangliosidosis (B Variant) in Two Japanese Chins: Clinical, Magnetic Resonance Imaging and Pathological Characteristics.

Published in:

Journal of Veterinary Internal Medicine, 2013, v. 27, n. 4, p. 771, doi. 10.1111/jvim.12118

By:

Freeman, A.C.;
Platt, S.R.;
Vandenberg, M.;
Holmes, S.;
Kent, M.;
Rech, R.;
Howerth, E.;
Mishra, S.;
O'Brien, D.P.;
Wenger, D.

Publication type:

Article

GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in a Family of Toy Poodles.

Published in:

Journal of Veterinary Internal Medicine, 2010, v. 24, n. 5, p. 1013, doi. 10.1111/j.1939-1676.2010.0564.x

By:

Tamura, S.;
Tamura, Y.;
Uchida, K.;
Nibe, K.;
Nakaichi, M.;
Hossain, M. A.;
Chang, H. S.;
Rahman, M. M.;
Yabuki, A.;
Yamato, O.

Publication type:

Article

GM1-gangliosidosis type I.

Published in:

2006

By:

Pavlu, Jiri;
Jackson, Marie;
Panoskaltsis, Nicki

Publication type:

Other

"Cherry red spot" in a patient with Tay-Sachs disease: case report.

Published in:

2009

By:

de Aragão, Ricardo Evangelista Marrocos;
Ramos, Régia Maria Gondim;
Pereira, Felipe Bezerra Alves;
Bezerra, Andreya Ferreira Rodrigues;
Fernandes, Daniel Nogueira

Publication type:

Case Study

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.

Published in:

2015

By:

Stendel, Claudia;
Gallenmüller, Constanze;
Peters, Katrin;
Bürger, Friederike;
Gramer, Gwendolyn;
Biskup, Saskia;
Klopstock, Thomas

Publication type:

Letter

Hurler Syndrome: A report of three cases.

Published in:

International Archives of Integrated Medicine, 2015, v. 2, n. 6, p. 210

By:

Makhela J.;
Kaushal K.;
Choraria S.;
Ranka M.;
Patel S. B.

Publication type:

Article

Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.

Published in:

Pediatrics International, 2003, v. 45, n. 1, p. 16, doi. 10.1046/j.1442-200X.2003.01669.x

By:

SİNİCİ, İNCİLAY;
ÖZKARA, H.ASUMAN;
TOPÇU, MERAL;
CİLİV, GÖNENÇ;
Ozkara, H. Asuman

Publication type:

Article

Zygosity Diagnosis: When Physicians and DNA Disagree/Twin Research: Sex-Discordant Chimeric Twins; Unrelated Bone Marrow Transplantation in Infant Twins With Congenital Amegakaryotic Thrombocytopenia; Twin Study of Attractiveness to Mosquitoes; Twins Coping With Crisis/Media Highlights: The Less Favored Twin; Paternity Issues; Twins With Late-Onset Tay-Sachs Disease; Triplets at MIT.

Published in:

2015

By:

Segal, Nancy L.

Publication type:

journal article