Ceroid

10/01/1997 - "These findings suggest that there is a link between carnitine biosynthesis and the disease pathology and indicate that carnitine supplementation may be beneficial in slowing the disease progression in humans with certain types of hereditary ceroid-lipofuscinosis."
10/01/1997 - "Dietary carnitine supplements slow disease progression in a putative mouse model for hereditary ceroid-lipofuscinosis."

03/15/2002 - "The findings of a transbronchial lung biopsy, presenting alveolar macrophages with ceroid-like material and platelet function studies proving slightly impaired platelet aggregation confirmed the clinical diagnosis of Hermansky-Pudlak syndrome. "
11/01/1995 - "Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndrome: an ultrastructural study."
05/01/1990 - "In this study of a patient with Hermansky-Pudlak syndrome, we demonstrate the presence of ceroid within dermal macrophages. "
06/01/2005 - "In addition, because platelet dysfunction and ceroid-like materials within the reticuloendothelial cells of urine and bone marrow aspiration were recognized, we made a diagnosis of Hermansky-Pudlak syndrome (HPS). "
11/01/1995 - "It was speculated that intralysosomal accumulation of ceroid pigment granules in Hermansky-Pudlak syndrome may be due to lysosomal dysfunction."

12/03/2002 - "The mnd mouse, a model of neuronal ceroid lipofusinosis (NCL), has a profound vitamin E deficiency in sera and brain, associated with cerebral deterioration characteristic of NCL. "
06/01/1990 - "Although other symptoms of vitamin E deficiency were not noticed in this case, some malnutritional condition might play a role in prominent deposition of ceroid in lysosomes, possibly together with deficient activity of a lysosomal enzyme."
06/01/1990 - "Ceroid deposition in generalized smooth muscle fibers is known as brown bowel syndrome, and is highly suggestive of severe vitamin E deficiency. "
07/01/1987 - "Four patients had accumulation of ceroid in smooth muscle (lipofuscinosis), which indicated severe or uncontrolled malabsorption, with confirmed vitamin E deficiency in three cases. "
07/01/1987 - "Accumulation of ceroid in smooth muscle indicates severe malabsorption and vitamin E deficiency."

10/01/1973 - "Electron microscopic studies were performed on cultured fibroblasts from patients with metachromatic leukodystrophy, Fabry's, Gaucher's, Niemann-Pick's (Type A and C), Sanfilippo's (Type A and B) disease, chondroitin-4-sulfate mucopolysaccharidosis, lipofuscinosis (Spielmeyer-Vogt's disease) and ceroid-lipofuscinosis (Batten's disease with curvilinear bodies). "
12/01/1994 - "CD4+, CD8+, and CD56+ cells were immunomagnetically separated from peripheral blood mononuclear cells in 10 patients with various lysosomal diseases--including one patient each with infantile, late infantile, and juvenile neuronal ceroid-lipfuscinoses, two patients with mucopolysaccharidosis (MPS) type I and four patients with MPS type III, and one patient with mucolipidosis type II; all lymphocytes were studied by light and electron microscopy. "
12/01/2000 - "Representative examples include the infantile and late infantile forms of the ceroid lipofuscinoses (CLN1 or CLN2 deficiency, respectively) and mucopolysaccharidoses type VII (MPS VII), a deficiency of beta-glucuronidase. "
09/01/1976 - "Ultrastructural study of the skin biopsies of 23 patients with either ceroid-lipofuscinoses, mucopolysaccharidoses, mucolipidoses, acid maltase deficiency or sphingolipidoses, demonstrates the presence of relatively typical cytosomes allowing a precise diagnosis at least as early as the time of the first clinical evaluation."
01/01/1990 - "The data suggest that mucopolysaccharidosis (MPS) type IVA (Morquio disease), multiple sulphatase deficiency, Niemann-Pick disease type B, GM2 gangliosidosis type '0' (Sandhoff disease), and ceroid lipofuscinosis (Jansky-Bielschowsky and Batten-Spielmeyer-Vogt syndromes) are encountered frequently in Saudi Arabia, as compared to other storage diseases. "

12/01/1994 - "CD4+, CD8+, and CD56+ cells were immunomagnetically separated from peripheral blood mononuclear cells in 10 patients with various lysosomal diseases--including one patient each with infantile, late infantile, and juvenile neuronal ceroid-lipfuscinoses, two patients with mucopolysaccharidosis (MPS) type I and four patients with MPS type III, and one patient with mucolipidosis type II; all lymphocytes were studied by light and electron microscopy. "
09/01/1976 - "Ultrastructural study of the skin biopsies of 23 patients with either ceroid-lipofuscinoses, mucopolysaccharidoses, mucolipidoses, acid maltase deficiency or sphingolipidoses, demonstrates the presence of relatively typical cytosomes allowing a precise diagnosis at least as early as the time of the first clinical evaluation."
01/01/1995 - "Amongst the progressive myoclonus epilepsy syndromes, specific mutations have already been defined in Unverricht Lundborg disease, ceroid lipofuscinoses 3 or Spielmayer Voight syndrome within Battens disease, sialidosis, dentadorubropallidoluysian atrophy and the mitochondrial syndrome MERRF. "
12/09/2015 - "Neuronal ceroid lipofucinosis1 and 2 (7.4%), mucolipidosis-II/III (1%), Sialic acid storage disorder (1%), Niemann-Pick disease type-C (1%) and Fucosidosis (0.3%) were observed with less frequency. "
08/01/1984 - "The present paper deals with some metabolic disorders which had not been fully dealt with in our previous publications and with an extension of the indications of skin biopsies: adult form and atypical variants of ceroid-lipofuscinoses, galactosialidosis, mucolipidosis IV, infantile neuroaxonal dystrophy, Lafora's disease, cardiomyopathy with generalized accumulation of intermediate filaments and congenital hypomyelination neuropathy. "