The molecular genetics of fucosidosis [PDF]
, 1992 Fucosidosis is a rare, autosomal recessive lysosomal storage disease resulting from a deficiency of α-L-fucosidase. The molecular basis of fucosidosis was investigated in six unrelated patients.
Williamson, Magali Patricia
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Studies on the Expression of Prosaposin and its Receptors in the Chick Vestibuloauditory-Related Organs [PDF]
岐阜大学(Gifu University)博士(獣医学)博士論文 (Doctoral dissertation)doctoral ...
Sohel, Md. Shahriar Hasan
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Strukturanalyse zum Katalysemechanismus und zur Stabilität der Arylsulfatase A [PDF]
, 2000 Die vorliegende Arbeit umfaßt röntgenstrukturanalytische und biochemische Untersuchungen zur Substratbindung und zum Katalysemechanismus der humanen Arylsulfatase A (ASA) sowie zu den Eigenschaften einer ASA-Mutante, welche im Zusammenhang mit einer ...
Bülow, Rixa von
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Functional impacts of transgenic overexpression of UDP-galactose : ceramide galactosyltransferase and polysialyltransferase on the development of oligodendrocytes and myelin maintenance [PDF]
1 PLP-CGT TRANSGENIC MICE Galactosylceramide (GalC) and its sulfated derivative (sulfatide) are major lipid components of the myelin membrane constituting about 30% of its lipid content. They fulfill essential functions in oligodendrocyte differentiation,
Ngamli Fewou, Simon
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Isolation and characterization of bacterial phosphorous metabolism genes from complex microbial communities [PDF]
, 2009 Phosphorous (P) is an essential nutrient, playing a central role in the life of a bacterial cell. It is involved in cellular metabolic pathways, cell signaling and is a component of many of the cell’s macromolecules.
Rolider, Adi
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Increased Cerebral Serum Amyloid A2 and Parameters of Oxidation in Arylsulfatase B (N-Acetylgalactosamine-4-Sulfatase)-Null Mice. [PDF]
J Alzheimers Dis Rep, 2023 Bhattacharyya S, Tobacman JK.
europepmc +1 more source
Accès à l'information biomédicale : vers une approche d'indexation et de recherche d'information conceptuelle basée sur la fusion de ressources termino-ontologiques [PDF]
, 2012 La recherche d'information (RI) est une discipline scientifique qui a pour objectif de produire des solutions permettant de sélectionner à partir de corpus d'information celle qui sont dites pertinentes pour un utilisateur ayant exprimé une requête. Dans
Dinh, Ba-Duy
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, 1998 Sequence analysis of the probable archaeal phosphoglycerate mutase resulted in the identification of a superfamily of metalloenzymes with similar metal-binding sites and predicted conserved structural fold. This superfamily unites alkaline phosphatase, N-
Bairoch, A. +2 more
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Development of Enzyme Replacement and Pharmacological Chaperone Approaches for Therapy of Metachromatic Leukodystrophy [PDF]
Metachromatic leukodystrophy (MLD) is a monogenic, autosomally recessively inherited lysosomal storage disease. Certain mutations of the arylsulfatase A (ASA) gene cause misfolding or absence of ASA.
Schuster, Tilman
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Tandem Mass Spectrometry of Sphingolipids: Application in Metabolic Studies and Diagnosis of Inherited Disorders of Sphingolipid Metabolism [PDF]
, 2012 Befekadu Asfaw +2 more
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