Search Results - "Kaye, EM"

Type 2 and type 3 Gaucher disease: a morphological and biochemical study by Kaye, E M, Ullman, M D, Wilson, E R, Barranger, J A

“…Glucocerebroside levels were measured in the brains of patients with neuronopathic forms (types 2 and 3) of Gaucher disease and compared to those obtained from…”
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MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation by JAN, Wajanat, ZIMMERMAN, Robert A, WANG, Zhiyue J, BERRY, Gerard T, KAPLAN, Paige B, KAYE, Edward M

“…Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism, which affects the brain tissue resulting in impairment or death if untreated…”
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Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis by Venditti, Laura N, Venditti, Charles P, Berry, Gerard T, Kaplan, Paige B, Kaye, Edward M, Glick, Henry, Stanley, Charles A

“…To determine whether newborn screening by tandem mass spectrometry (MS/MS) for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is cost-effective versus…”
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Update on genetic disorders affecting white matter by Kaye, Edward M

“…The classification of diseases affecting white matter has changed dramatically with the use of magnetic resonance imaging. Classical leukodystrophies, such as…”
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Does gender parity exist in Fabry disease? by Percy, Alan K, Kaye, Edward M

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Where has all the white matter gone? Unraveling the mysteries of leukoencephalopathies by Kaye, Edward M, Moser, Hugo

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What does it mean to be a carrier for a metabolic disease? by Kaye, Edward M.

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Childhood ataxia with diffuse central nervous system hypomyelination by Schiffmann, R, Moller, J R, Trapp, B D, Shih, H H, Farrer, R G, Katz, D A, Alger, J R, Parker, C C, Hauer, P E, Kaneski, C R

“…A significant number of patients with progressive leukodystrophy do not have a definitive diagnosis. This report describes the clinical, morphological, and…”
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A Controlled Trial of Diazepam Administered during Febrile Illnesses to Prevent Recurrence of Febrile Seizures by Rosman, N. Paul, Colton, Theodore, Labazzo, Jan, Gilbert, Paula L, Gardella, Nancy B, Kaye, Edward M, Van Bennekom, Carla, Winter, Michael R

“…Convulsions triggered by fever (febrile seizures) are the most common type of seizure, with a prevalence of 3 to 4 percent 1 . Febrile seizures frequently…”
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Pediatric physical functioning reference curves by Haley, Stephen M., Fragala-Pinkham, Maria A., Ni, Peng Sheng, Skrinar, Alison M., Kaye, Edward M.

“…We developed normative profiles of physical functioning (mobility and self-care) in infancy up through 14 years of age with an expanded version of the…”
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Gene therapy for the central nervous system in the lysosomal storage disorders by Kaye, Edward M, Sena-Esteves, Miguel

“…Although great promise has been made in the field of gene therapy, a number of difficulties must be solved before successful human studies can be completed…”
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Lactic Acid Elevation in Extramitochondrial Childhood Neurodegenerative Diseases by Kang, Peter B., Hunter, Jill V., Kaye, Edward M.

“…We report three children, each of whom seemed to have a primary mitochondrial disorder at presentation but was eventually diagnosed with an extramitochondrial…”
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Infantile G(M1) gangliosidosis: complete morphology and histochemistry of two autopsy cases, with particular reference to delayed central nervous system myelination by Folkerth, R D, Alroy, J, Bhan, I, Kaye, E M

“…Inborn metabolic errors causing lysosomal storage, such as beta-galactosidase deficiency (G(M1) gangliosidosis [G(M1)]), have well-recognized effects on…”
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Mitochondrial activity in pompe’s disease by Selak, Mary A, de Chadarevian, Jean Pierre, Melvin, Joseph J, Grover, Warren D, Salganicoff, Leon, Kaye, Edward M

“…Mitochondrial oxidative metabolism was examined in two infants with Pompe’s disease. The clinical diagnosis was confirmed by the demonstration of…”
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Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases by Prasad, A, Kaye, E M, Alroy, J

“…In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin…”
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Acetazolamide and furosemide for posthemorrhagic hydrocephalus of the newborn by Libenson, Mark H, Kaye, Edward M, Rosman, N.Paul, Gilmore, Herbert E

“…The authors evaluated the efficacy of acetazolamide (ACZ) and furosemide (FUR) in avoiding ventricular shunting procedures in preterm infants with…”
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Neonatal idiopathic cerebral venous thrombosis: an unrecognized cause of transient seizures or lethargy by Rivkin, M J, Anderson, M L, Kaye, E M

“…Seven neonates who presented with either lethargy (four infants) or seizures (three infants) were found by magnetic resonance (MR) phase imaging to have…”
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Angiocentric CD3(+) T-cell infiltrates in human immunodeficiency virus type 1-associated central nervous system disease in children by Katsetos, C D, Fincke, J E, Legido, A, Lischner, H W, de Chadarevian, J P, Kaye, E M, Platsoucas, C D, Oleszak, E L

“…A significant proportion of brain tissue specimens from children with AIDS show evidence of vascular inflammation in the form of transmural and/or perivascular…”
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Amino acids and the brain: too much, too little, or just inappropriate use of a good thing? by Kaye, E M, Hyland, K

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Creatin' news by Ross, B D, Kaye, E M

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