Search the collection

71 results for beta-Galactosidase+-+deficiency

Sort by:

Sort by

Limit results to:

20 per page

71 results for beta-Galactosidase+-+deficiency

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
Author / Creator:Tebani, Abdellah ; Sudrié-Arnaud, Bénédicte ; Dabaj, Ivana ; Torre, Stéphanie ; Domitille, Laur ; Snanoudj, Sarah ; Heron, Benedicte ; Levade, Thierry ; Caillaud, Catherine ; Vergnaud, Sabrina ; Saugier-Veber, Pascale ; Coutant, Sophie ; Dranguet, Hélène ; Froissart, Roseline ; Al Khouri, Majed ; Alembik, Yves ; Baruteau, Julien ; Arnoux, Jean-Baptiste ; Brassier, Anais ; Brehin, Anne-Claire ; Busa, Tiffany ; Cano, Aline ; Chabrol, Brigitte ; Coubes, Christine ; Desguerre, Isabelle ; Doco-Fenzy, Martine ; Drenou, Bernard ; Elcioglu, Nursel H ; Elsayed, Solaf ; Fouilhoux, Alain ; Poirsier, Céline ; Goldenberg, Alice ; Jouvencel, Philippe ; Kuster, Alice ; Labarthe, François ; Lazaro, Leila ; Pichard, Samia ; Rivera, Serge ; Roche, Sandrine ; Roggerone, Stéphanie ; Roubertie, Agathe ; Sigaudy, Sabine ; Spodenkiewicz, Marta ; Tardieu, Marine ; Vanhulle, Catherine ; Marret, Stéphane ; Bekri, Soumeya
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-04, Vol.59 (4), p.377-384
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
[beta]-Galactosidase deficiency: An approach to chaperone therapy
Author / Creator:Suzuki, Yoshiyuki
Publisher:Dordrecht: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2006-03, Vol.29 (2-3), p.471
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
Reference EntriesFull Text
Neuraminidase deficiency with beta-galactosidase deficiency
Author / Creator:Alic, Margaret
Journal title:Gale Encyclopedia of Genetic Disorders, 2010
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Generalized Gangliosidosis: Beta-Galactosidase Deficiency
Author / Creator:Okada, Shintaro ; O'Brien, John S.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1968-05, Vol.160 (3831), p.1002-1004
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
Reference EntriesFull Text
Neuraminidase Deficiency with Beta-Galactosidase Deficiency
Author / Creator:Alic, Margaret
Journal title:Gale Encyclopedia of Genetic Disorders, 2005, Vol.2, p.905-909
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis
Author / Creator:Kreutzer, R ; Kreutzer, M ; Pröpsting, M J ; Sewell, A C ; Leeb, T ; Naim, H Y ; Baumgärtner, W
Publisher:England
Journal title:Journal of cellular and molecular medicine, 2008-09, Vol.12 (5A), p.1661-1671
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
β-Galactosidase deficiency in a Korat cat : a new form of feline GM1-gangliosidosis
Author / Creator:DE MARIA, R ; DIVARI, S ; BO, S ; SONNINO, S ; LOTTI, D ; CAPUCCHIO, M. T ; CASTAGNARO, M
Publisher:Berlin: Springer
Journal title:Acta neuropathologica, 1998-09, Vol.96 (3), p.307-314
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
Reference EntriesFull Text
Neuraminidase deficiency with beta-galactosidase deficiency
Author / Creator:Alic, Margaret
Journal title:Gale Encyclopedia of Genetic Disorders, 2002, Vol.2, p.807-811
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B
Author / Creator:Paschke, Eduard ; Milos, Ivica ; Kreimer-Erlacher, Heidemarie ; Hoefler, Gerald ; Beck, Michael ; Hoeltzenbein, Maria ; Kleijer, Wim ; Levade, Thierry ; Michelakakis, Helen ; B., Radeva
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2001-08, Vol.109 (2), p.159-166
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
β‐Galactosidase deficiency: An approach to chaperone therapy
Author / Creator:Suzuki, Yoshiyuki
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.471-476
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Clinical findings in Brazilian patients with adult GM1 gangliosidosis
Author / Creator:Giugliani, Luciana ; Steiner, Carlos Eduardo ; Kim, Chong Ae ; Lourenço, Charles Marques ; Santos, Mara Lucia Schmitz Ferreira ; Souza, Carolina Fischinger Moura ; Brusius‐Facchin, Ana Carolina ; Baldo, Guilherme ; Riegel, Mariluce ; Giugliani, Roberto
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2019-09, Vol.49 (1), p.96-106
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Effect of Endothelium-Specific Insulin Resistance on Endothelial Function In Vivo
Author / Creator:Duncan, Edward R. ; Crossey, Paul A. ; Walker, Simon ; Anilkumar, Narayana ; Poston, Lucilla ; Douglas, Gillian ; Ezzat, Vivienne A. ; Wheatcroft, Stephen B. ; Shah, Ajay M. ; Kearney, Mark I.
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2008-12, Vol.57 (12), p.3307-3314
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis
Author / Creator:Matsuda, Junichiro ; Suzuki, Osamu ; Oshima, Akihiro ; Yamamoto, Yoshie ; Noguchi, Akira ; Takimoto, Kazuhiro ; Itoh, Masayuki ; Matsuzaki, Yuji ; Yasuda, Yosuke ; Ogawa, Seiichiro ; Sakata, Yuko ; Nanba, Eiji ; Higaki, Katsumi ; Ogawa, Yoshimi ; Tominaga, Lika ; Ohno, Kousaku ; Iwasaki, Hiroyuki ; Watanabe, Hiroshi ; Brady, Roscoe O ; Suzuki, Yoshiyuki
Publisher:United States
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2003-12, Vol.100 (26), p.15912-15917
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Complete Correction of Enzymatic Deficiency and Neurochemistry in the GM1-gangliosidosis Mouse Brain by Neonatal Adeno-associated Virus–mediated Gene Delivery
Author / Creator:Broekman, M L D ; Baek, R C ; Comer, L A ; Fernandez, J L ; Seyfried, T N ; Sena-Esteves, M
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2007-01, Vol.15 (1), p.30-37
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Mechanisms of distribution of mouse β-galactosidase in the adult GM1-gangliosidosis brain
Author / Creator:Broekman, M L D ; Tierney, L A ; Benn, C ; Chawla, P ; Cha, J H ; Sena-Esteves, M
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2009-02, Vol.16 (2), p.303-308
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Probiotics in human medicine
Author / Creator:Fuller, R
Publisher:London: BMJ Publishing Group Ltd and British Society of Gastroenterology
Journal title:Gut, 1991-04, Vol.32 (4), p.439-442
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Peroral gene therapy of lactose intolerance using an adeno-associated virus vector
Author / Creator:During, Matthew J. ; Xu, Ruian ; Young, Deborah ; Kaplitt, Michael G. ; Sherwin, Robert S. ; Leone, Paola
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 1998-10, Vol.4 (10), p.1131-1135
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Insights into pH-Induced Conformational Transition of β-Galactosidase from Pisum sativum Leading to its Multimerization
Author / Creator:Dwevedi, Alka ; Dubey, Vikash Kumar ; Jagannadham, Medicherla V ; Kayastha, Arvind M
Publisher:New York: New York : Humana Press Inc
Journal title:Applied biochemistry and biotechnology, 2010-12, Vol.162 (8), p.2294-2312
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
American Academy of Pediatrics. Committee on Nutrition. Soy protein-based formulas: recommendations for use in infant feeding
Author / Creator:American Academy of Pediatrics. Committee on Nutrition
Publisher:United States
Journal title:Pediatrics (Evanston), 1998-01, Vol.101 (1 Pt 1), p.148-153
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Shaping the sperm head: an ER enzyme leaves its mark
Author / Creator:Roy, Angshumoy ; Lin, Yi-Nan ; Matzuk, Martin M.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2006-11, Vol.116 (11), p.2860-2863
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 71 results

Export record to excel

Export this record

Export record to excel

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Export this record

Export record to excel

[beta]-Galactosidase deficiency: An approach to chaperone therapy

Export this record

Export record to excel

Neuraminidase deficiency with beta-galactosidase deficiency

Export this record

Export record to excel

Generalized Gangliosidosis: Beta-Galactosidase Deficiency

Export this record

Export record to excel

Neuraminidase Deficiency with Beta-Galactosidase Deficiency

Export this record

Export record to excel

Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis

Export this record

Export record to excel

β-Galactosidase deficiency in a Korat cat : a new form of feline GM1-gangliosidosis

Export this record

Export record to excel

Neuraminidase deficiency with beta-galactosidase deficiency

Export this record

Export record to excel

Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

Export this record

Export record to excel

β‐Galactosidase deficiency: An approach to chaperone therapy

Export this record

Export record to excel

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

Export this record

Export record to excel

Effect of Endothelium-Specific Insulin Resistance on Endothelial Function In Vivo

Export this record

Export record to excel

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

Export this record

Export record to excel

Complete Correction of Enzymatic Deficiency and Neurochemistry in the GM1-gangliosidosis Mouse Brain by Neonatal Adeno-associated Virus–mediated Gene Delivery

Export this record

Export record to excel

Mechanisms of distribution of mouse β-galactosidase in the adult GM1-gangliosidosis brain

Export this record

Export record to excel

Probiotics in human medicine

Export this record

Export record to excel

Peroral gene therapy of lactose intolerance using an adeno-associated virus vector

Export this record

Export record to excel

Insights into pH-Induced Conformational Transition of β-Galactosidase from Pisum sativum Leading to its Multimerization

Export this record

Export record to excel

American Academy of Pediatrics. Committee on Nutrition. Soy protein-based formulas: recommendations for use in infant feeding

Export this record

Export record to excel

Shaping the sperm head: an ER enzyme leaves its mark

Refine your search