Results 21 to 30 of about 796 (126)

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 206-219, March 2023., 2023
Abstract Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter   +6 more
wiley   +1 more source

Electron Microscopic Studies of the Rectal Mucosa Obtained by Biopsy in Mucopolysaccharidoses, Mucolipidoses and Sphingolipidoses [PDF]

, 1975
Electron microscopic studies were performed on the rectal mucosa from patients with mucopolysac-charidoses, mucolipidoses and sphingolipidoses. The following results were obtained.
堀野, 清孝
core   +1 more source

Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study

Pediatric Anesthesia, Volume 30, Issue 2, Page 181-190, February 2020., 2020
Abstract Background Children suffering from mucopolysaccharidoses (subtypes I, II, III, IV, VI, and VII) or mucolipidoses often require anesthesia, but are at high risk for perioperative adverse events. However, the impact of the disease subtype and the standard of care for airway management are still unclear.
Thorsten Dohrmann, Nicole M. Muschol, Susanne Sehner, Mark A. Punke, Sebastian A. Haas, Katharina Roeher, Sandra Breyer, Anja F. Koehn, Kurt Ullrich, Christian Zöllner, Martin Petzoldt, Francis Veyckemans   +11 more
wiley   +1 more source

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

JIMD Reports, Volume 51, Issue 1, Page 53-61, January 2020., 2020
Abstract Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems. The first clinical signs and symptoms are usually unspecific and shared by hundreds of other disorders.
Gloria Muñoz, David García‐Seisdedos, Crina Ciubotariu, Miguel Piris‐Villaespesa, Marta Gandía, Fernando Martín‐Moro, Luis G. Gutiérrez‐Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez‐Herranz, Jesús Villarrubia, Francisco J. del Castillo   +11 more
wiley   +1 more source

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

JIMD Reports, Volume 49, Issue 1, Page 96-106, September 2019., 2019
Abstract GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form. This retrospective cross‐sectional study focused on clinical findings in Brazilian patients with the adult form of GM1 gangliosidosis ...
Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura de Souza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani   +9 more
wiley   +1 more source

Metabolic Causes of Epileptic Encephalopathy

Epilepsy Research and Treatment, Volume 2013, Issue 1, 2013., 2013
Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. These may present with various epilepsy phenotypes including refractory neonatal seizures, early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile ...
Joe Yuezhou Yu, Phillip L. Pearl, Giangennaro Coppola   +2 more
wiley   +1 more source

Ganglioside Biochemistry

International Scholarly Research Notices, Volume 2012, Issue 1, 2012., 2012
Gangliosides are sialic acid‐containing glycosphingolipids. They occur especially on the cellular surfaces of neuronal cells, where they form a complex pattern, but are also found in many other cell types. The paper provides a general overview on their structures, occurrence, and metabolism. Key functional, biochemical, and pathobiochemical aspects are
Thomas Kolter, H. Itoh, B. Penke
wiley   +1 more source

Phenytoin‐Induced Gingival Overgrowth: A Review of the Molecular, Immune, and Inflammatory Features

International Scholarly Research Notices, Volume 2011, Issue 1, 2011., 2011
Gingival overgrowth (GO) is a side effect associated with some distinct classes of drugs, such as anticonvulsants, immunosuppressant, and calcium channel blockers. GO is characterized by the accumulation of extracellular matrix in gingival connective tissues, particularly collagenous components, with varying degrees of inflammation.
Jôice Dias Corrêa, Celso Martins Queiroz-Junior, José Eustáquio Costa, Antônio Lúcio Teixeira, Tarcilia Aparecida Silva, M. Del Fabbro, S. E. Widmalm   +6 more
wiley   +1 more source

Specific GAG ratios in the diagnosis of mucopolysaccharidoses

JIMD Reports, Volume 65, Issue 2, Page 116-123, March 2024.
Abstract Mucopolysaccharidoses (MPS) screening is tedious and still performed by analysis of total glycosaminoglycans (GAG) using 1,9‐dimethylmethylene blue (DMB) photometric assay, although false positive and negative tests have been reported. Analysis of differentiated GAGs have been pursued classically by gel electrophoresis or more recently by ...
Déborah Mathis, Jean‐Christophe Prost, Gabriela Maeder, Liya Arackal, Haoyue Zhang, Sandra Kurth, Katrin Freiburghaus, Jean‐Marc Nuoffer   +7 more
wiley   +1 more source

The Mucolipidoses: Multiple Hydrolase Deficiency Diseases

Upsala Journal of Medical Sciences, 1977
William S. Sly
openaire   +3 more sources