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Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2016, Volume 53, Issue 6, pp. 403 - 418
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2017, Volume 40, Issue 1, pp. 151 - 158
Background Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible skeletal, visceral,... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ASSAY | LYSOSOMAL STORAGE DISORDERS | HUMAN SERUM | DRIED BLOOD SPOTS | IVA | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | SULFATE-DERIVED DISACCHARIDES | HEPARAN-SULFATE | ENZYME REPLACEMENT THERAPY | KERATAN SULFATE | Acetylglucosaminidase - blood | Glycosaminoglycans - blood | Polysaccharide-Lyases - metabolism | Chondroitinases and Chondroitin Lyases - metabolism | Polysaccharide-Lyases - blood | Disaccharides - metabolism | Glycosaminoglycans - metabolism | Mucopolysaccharidoses - blood | Mucopolysaccharidoses - metabolism | Humans | Dermatan Sulfate - blood | Neonatal Screening - methods | Heparitin Sulfate - metabolism | Mucopolysaccharidoses - diagnosis | Dermatan Sulfate - metabolism | Pilot Projects | Heparitin Sulfate - blood | Chondroitinases and Chondroitin Lyases - blood | Acetylglucosaminidase - metabolism | Disaccharides - blood | Chromatography, Liquid - methods | Tandem Mass Spectrometry - methods | Infant, Newborn | Measurement | Infants (Newborn) | Analysis | Brain damage | Liquid chromatography | Sulfates | Mass spectrometry | glycosaminoglycans | tandem mass spectrometry | disaccharides | mucopolysaccharidoses | newborn screening
Journal Article
by Abelev, B and Adam, J and Adamová, D and Adare, A.M and Aggarwal, M.M and Aglieri Rinella, G and Agocs, A.G and Agostinelli, A and Aguilar Salazar, S and Ahammed, Z and Ahmad Masoodi, A and Ahmad, N and Ahn, S.U and Akindinov, A and Aleksandrov, D and Alessandro, B and Alfaro Molina, R and Alici, A and Alkin, A and Almaráz Aviña, E and Alme, J and Alt, T and Altini, V and Altinpinar, S and Altsybeev, I and Andrei, C and Andronic, A and Anguelov, V and Anielski, J and Antičić, T and Antinori, F and Antonioli, P and Aphecetche, L and Appelshäuser, H and Arbor, N and Arcelli, S and Arend, A and Armesto, N and Arnaldi, R and Aronsson, T and Arsene, I.C and Arslandok, M and Augustinus, A and Averbeck, R and Awes, T.C and Äystö, J and Azmi, M.D and Bach, M and Badalà, A and Baek, Y.W and Bailhache, R and Bala, R and Baldini Ferroli, R and Baldisseri, A and Baldit, A and Baltasar Dos Santos Pedrosa, F and Bán, J and Baral, R.C and Barbera, R and Barile, F and Barnaföldi, G.G and Barnby, L.S and Barret, V and Bartke, J and Basile, M and Bastid, N and Basu, S and Bathen, B and Batigne, G and Batyunya, B and Baumann, C and Bearden, I.G and Beck, H and Belikov, I and Bellini, F and Bellwied, R and Belmont-Moreno, E and Bencedi, G and Beole, S and Berceanu, I and Bercuci, A and Berdnikov, Y and Berenyi, D and Berzano, D and Betev, L and Bhasin, A and Bhati, A.K and Bhom, J and Bianchi, L and Bianchi, N and Bianchin, C and Bielčík, J and Bielčíková, J and Bilandzic, A and Bjelogrlic, S and Blanco, F and Blanco, F and Blau, D and Blume, C and Bock, N and ...
Physical Review Letters, ISSN 0031-9007, 12/2012, Volume 109, Issue 25, p. 252302
The first measurement of neutron emission in electromagnetic dissociation of 208Pb nuclei at the LHC is presented. The measurement is performed using the... 
Nuclear Experiment | Physics | High Energy Physics - Experiment
Journal Article
by Adam, J and Adamová, D and Aggarwal, M. M and Aglieri Rinella, G and Agnello, M and Agrawal, N and Ahammed, Z and Ahn, S. U and Aimo, I and Aiola, S and Ajaz, M and Akindinov, A and Alam, S. N and Aleksandrov, D and Alessandro, B and Alexandre, D and Alfaro Molina, R and Alici, A and Alkin, A and Almaraz, J. R. M and Alme, J and Alt, T and Altinpinar, S and Altsybeev, I and Alves Garcia Prado, C and Andrei, C and Andronic, A and Anguelov, V and Anielski, J and Antičić, T and Antinori, F and Antonioli, P and Aphecetche, L and Appelshäuser, H and Arcelli, S and Armesto, N and Arnaldi, R and Arsene, I. C and Arslandok, M and Audurier, B and Augustinus, A and Averbeck, R and Azmi, M. D and Bach, M and Badalà, A and Baek, Y. W and Bagnasco, S and Bailhache, R and Bala, R and Baldisseri, A and Baltasar Dos Santos Pedrosa, F and Baral, R. C and Barbano, A. M and Barbera, R and Barile, F and Barnaföldi, G. G and Barnby, L. S and Barret, V and Bartalini, P and Barth, K and Bartke, J and Bartsch, E and Basile, M and Bastid, N and Basu, S and Bathen, B and Batigne, G and Batista Camejo, A and Batyunya, B and Batzing, P. C and Bearden, I. G and Beck, H and Bedda, C and Behera, N. K and Belikov, I and Bellini, F and Bello Martinez, H and Bellwied, R and Belmont, R and Belmont-Moreno, E and Belyaev, V and Bencedi, G and Beole, S and Berceanu, I and Bercuci, A and Berdnikov, Y and Berenyi, D and Bertens, R. A and Berzano, D and Betev, L and Bhasin, A and Bhat, I. R and Bhati, A. K and Bhattacharjee, B and Bhom, J and Bianchi, L and Bianchi, N and Bianchin, C and Bielčík, J and Bielčíková, J and ... and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Journal of High Energy Physics (Online), ISSN 1029-8479, 05/2016, Volume 2016, Issue 5
The production of J/ψ and ψ(2S) was studied with the ALICE detector in Pb-Pb collisions at the LHC. The measurement was performed at forward rapidity (2.5 < y... 
heavy ion experiments | PHYSICS OF ELEMENTARY PARTICLES AND FIELDS | quark gluon plasma
Journal Article
Drug Design, Development and Therapy, ISSN 1177-8881, 04/2015, Volume 9, pp. 1937 - 1953
Patients with mucopolysaccharidosis IVA (MPS IVA) can present with systemic skeletal dysplasia, leading to a need for multiple orthopedic surgical procedures,... 
Mucopolysaccharidosis IVA | Skeletal dysplasia | HSCT | ERT | Keratan sulfate | HURLER-SYNDROME | CHEMISTRY, MEDICINAL | mucopolysaccharidosis IVA | BONE-MARROW-TRANSPLANTATION | DRUG-DELIVERY SYSTEM | MUCOPOLYSACCHARIDOSIS TYPE-IVA | LYSOSOMAL STORAGE DISORDERS | II HUNTER-SYNDROME | skeletal dysplasia | MAROTEAUX-LAMY-SYNDROME | keratan sulfate | RECOMBINANT N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE | TERM-FOLLOW-UP | PHARMACOLOGY & PHARMACY | Hematopoietic Stem Cell Transplantation | Enzyme Replacement Therapy | Mucopolysaccharidosis IV - therapy | Humans | Enzymes | Care and treatment | Patient outcomes | Mucopolysaccharidosis | Transplantation | Health aspects | Hematopoietic stem cells | Methods | Heart | Therapy | Pediatrics | N-Acetylgalactosamine | Respiratory function | Syngeneic grafts | Genotype & phenotype | Microorganisms | Apnea | Wheelchairs | Bone marrow | Bone dysplasia | Biocompatibility | Trochanter | Activities of daily living | Orthoses | Patients | Heart valves | Quality of life | Radiography | Pathology | Storage | Radiographs | Stem cells | Chondrocytes | Biomarkers | Scientific imaging | Mass spectrometry | Knee | Yeast | Transplants & implants | Bone marrow transplantation | Stem cell transplantation | Sulfates | Sleep disorders | Biomedical materials | Reduction | Skeleton | Lesions | Recombinant | Bone lesions | Medical screening | Chromatography | Hip | Hemopoiesis | Ankle | Lungs | Coronary vessels | Climb | Bone mineral density
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2013, Volume 36, Issue 2, pp. 235 - 246
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2013, Volume 110, Issue 1-2, pp. 42 - 53
Journal Article
Molecular Therapy, ISSN 1525-0016, 06/2010, Volume 18, Issue 6, pp. 1094 - 1102
Mucopolysaccharidosis IVA (MPS IVA, Morquio A disease) is an inherited lysosomal storage disorder that features skeletal chondrodysplasia caused by deficiency... 
MEDICINE, RESEARCH & EXPERIMENTAL | FORMYLGLYCINE-GENERATING ENZYME | RETICU