Cervical Stenosis and Spastic Quadriparesis in Morquio Disease (MPS IV): A Case Report with Twenty-six-Year Follow-up
- Enfermedad de Faucher. Reporte de un caso y revisiÃ³n de la bibliografÃa. Álvarez, Iván Martínez; Trujillo, Alicia Rivera; Rodríguez, Sonia Hernández; Madrigal, Jaime Carranza // Medicina Interna de Mexico;mar/abr2011, Vol. 27 Issue 2, p198
The lysosomal storage diseases (LSDs) are a group of entities with a meaningful organic affectation proile and important morbid-mortality rates, which considerably affect the patients' quality of life. At present, new lysosomal storage diseases are regularly described because their...
- Erratum to: LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases. Mello, A. S.; Goldim, M. P.; Mezzalira, J.; Garcia, C. S.; Daitx, V. V.; Castilhos, C. D.; Viegas, M. S.; Vieira, O. V.; Coelho, J. C. // Molecular & Cellular Biochemistry;Jan2014, Vol. 385 Issue 1/2, p309
A correction to the article "LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases" published online on October 18, 2013 is presented.
- glycoprival, glycoprivous. // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p970
A definition of the term "glycoprival" or "glycoprivous," which refers to a state lacking in or without carbohydrates, is presented.
- Does the timing of treatment affect the ocular phenotype in patients with Mucopolysaccharidosis I homozygous for the L490P mutation? Chan, W H; Biswas, S; Lloyd, I C; Wraith, E; Jones, S; Mercer, J; Ashworth, J L // Eye;Sep2013, Vol. 27 Issue 9, p1112
A letter to the editor on ocular phenotype in patients with Mucopolysaccharidosis is presented.
- Carbo-lovers alert: Eat fiber or else. Carey, Benedict; Hastings, John // Health (Time Inc. Health);May/June97, Vol. 11 Issue 4, p11
Focuses on the negative effects of carbohydrates in diets. Findings of the researchers at Harvard Medical School on a diet high in certain types of carbohydrates; How to get on a right track in taking carbohydrates; Findings of JoAnn Mason on her research regarding carbohydrates; Foods and...
- Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with Fabry disease later-onset GLA IVS 4+919G>A. Chien, Y. H.; Bodamer, O. A; Chiang, S. C. // Current Medical Literature: Lysosomal Storage Disease;2013, Vol. 11 Issue 2, p43
A review of the article "Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with Fabry disease later-onset GLA IVS4+919G>A," by Y. H. Chien and colleagues, which appeared in the periodical "Journal of Inherited Metabolic Disease" on October 30, 2012, is presented.
- A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. Giese, Anne-Katrin; Mascher, Hermann; Grittner, Ulrike; Eichler, Sabrina; Kramp, Guido; Lukas, Jan; te Vruchte, Danielle; Al Eisa, Nada; Cortina-Borja, Mario; Porter, Forbes D.; Platt, Frances M.; Rolfs, Arndt // Orphanet Journal of Rare Diseases;2015, Vol. 10 Issue 1, p1
Background: Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births, though recent neonatal screening...
- Carbohydrate-deficient glycoprotein syndrome. Hirsch, David // Exceptional Parent;Jul99, Vol. 29 Issue 7, p64
Discusses carbohydrate-deficient glycoprotein syndrome (CDGS). Causes of CDGS; Biochemical basis of CDGS; Types of CDGS; Symptoms of this syndrome; Diagnosis and treatment.
- chondro-osteodystrophy. // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p442
An encyclopedia entry for "chondro-osteodystrophy," which pertains to mucopolysaccharidosis, is presented.