Related references
Note: Only part of the references are listed.Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview
Anna Caciotti et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Allogeneic hematopoietic stem cell transplant improves outcomes in fucosidosis
Ashish Gupta et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis
Troy C. Lund et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
Disease progression of alpha-mannosidosis and impact on patients and carers - A UK natural history survey
Jacqueline Adam et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2019)
Alpha-Mannosidosis: Therapeutic Strategies
Maria Rachele Ceccarini et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)
Mucolipidosis type III, a series of adult patients
Esmee Oussoren et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosisKeywords
Allan M. Lund et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
TGF-β Regulates Cathepsin Activation during Normal and Pathogenic Development
Heather Flanagan-Steet et al.
CELL REPORTS (2018)
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
Ida Annunziata et al.
EXPERT OPINION ON ORPHAN DRUGS (2017)
Brain abnormalities in fucosidosis: transplantation or supportive therapy?
Minyan Jiang et al.
METABOLIC BRAIN DISEASE (2017)
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice
Stijn Stroobants et al.
NEUROBIOLOGY OF DISEASE (2017)
Aspartylglycosaminuria: a review
Maria Arvio et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis
Gauthami Sudhamayee Kondagari et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice
Markus Damme et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2015)
Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease
Troy C. Lund et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2014)
Busulfan Conditioning Enhances Engraftment of Hematopoietic Donor-derived Cells in the Brain Compared With Irradiation
Fiona L. Wilkinson et al.
MOLECULAR THERAPY (2013)
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients
M. Mynarek et al.
BONE MARROW TRANSPLANTATION (2012)
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II
Aaron C. Petrey et al.
DISEASE MODELS & MECHANISMS (2012)
Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation
Alessia Capotondo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
From Serendipity to Therapy
Elizabeth F. Neufeld
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 80 (2011)
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment
Derk Frederik Matthaus Avenarius et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice
Ulla Dunder et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Molecular order in mucolipidosis II and III nomenclature
Sara S. Cathey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Alpha-mannosidosis
Dag Malm et al.
ORPHANET JOURNAL OF RARE DISEASES (2008)
Mutation identification and characterization of a Taiwanese patient with fucosidosis
Shuan-Pei Lin et al.
JOURNAL OF HUMAN GENETICS (2007)
Haematopoietic stem cell transplantation trends in children over the last three decades: a survey by the paediatric diseases working party of the European Group for Blood and Marrow Transplantation
M. Miano et al.
BONE MARROW TRANSPLANTATION (2007)
Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits mice
Alessandra Biffi et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Allogeneic hematopoietic stem cell transplantation for inherited disorders:: Experience in a single center
O Ringdén et al.
TRANSPLANTATION (2006)
Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?
M Schiff et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2005)
The α- and β-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme phosphotransferase are encoded by a single cDNA
M Kudo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Short-term, high dose enzyme replacement therapy in sialidosis mice
DN Wang et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes
T Kanekura et al.
JOURNAL OF DERMATOLOGICAL SCIENCE (2005)
Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis
EJ Bonten et al.
FASEB JOURNAL (2004)
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells
A Biffi et al.
JOURNAL OF CLINICAL INVESTIGATION (2004)
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III -: art. no. e52
A Raas-Rothschild et al.
JOURNAL OF MEDICAL GENETICS (2004)
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors
G Malm et al.
TRANSPLANTATION (2004)
Adult α-mannosidosis -: Clinical progression in the absence of demyelination
A Gutschalk et al.
NEUROLOGY (2004)
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome
SL Staba et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Variable clinical presentation of lysosomal β-mannosidosis in patients with null mutations
R Bedilu et al.
MOLECULAR GENETICS AND METABOLISM (2002)
Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells
T Leimig et al.
BLOOD (2002)
Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation
M Miano et al.
BONE MARROW TRANSPLANTATION (2001)
A new case of α-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation
K Kodama et al.
BRITISH JOURNAL OF DERMATOLOGY (2001)
Bone marrow transplantation for aspartylglucosaminuria: Follow-up study of transplanted and non-transplanted patients
M Arvio et al.
JOURNAL OF PEDIATRICS (2001)
Enzyme replacement therapy in a mouse model of aspartylglycosaminuria
U Dunder et al.
FASEB JOURNAL (2000)
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
A Raas-Rothschild et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)