Velocardiofacial syndrome in childhood-onset schizophrenia
Usiskin, S I, Nicolson, R, Krasnewich, D M, Yan, W, Lenane, M, Wudarsky, M, Hamburger, S D, Rapoport, J L
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01.12.1999)
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01.12.1999)
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Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis
GAHL, W. A, BERNARDINI, I. M, DALAKAS, M. C, MARKELLO, T. C, KRASNEWICH, D. M, CHARNAS, L. R
Published in Pediatric research (01.08.1993)
Published in Pediatric research (01.08.1993)
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Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition
Leroy, Jules G., Seppala, Raili, Huizing, Marjan, Dacremont, George, De Simpel, Helena, Van Coster, Rudy N., Orvisky, Edwin, Krasnewich, Donna M., Gahl, William A.
Published in American journal of human genetics (01.06.2001)
Published in American journal of human genetics (01.06.2001)
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Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired"
Yan, W, Jacobsen, L K, Krasnewich, D M, Guan, X Y, Lenane, M C, Paul, S P, Dalwadi, H N, Zhang, H, Long, R T, Kumra, S, Martin, B M, Scambler, P J, Trent, J M, Sidransky, E, Ginns, E I, Rapoport, J L
Published in American journal of medical genetics (07.02.1998)
Published in American journal of medical genetics (07.02.1998)
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Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21
Yan, W L, Guan, X Y, Green, E D, Nicolson, R, Yap, T K, Zhang, J, Jacobsen, L K, Krasnewich, D M, Kumra, S, Lenane, M C, Gochman, P, Damschroder-Williams, P J, Esterling, L E, Long, R T, Martin, B M, Sidransky, E, Rapoport, J L, Ginns, E I
Published in American journal of medical genetics (04.12.2000)
Published in American journal of medical genetics (04.12.2000)
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Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
Galeano, Belinda, Klootwijk, Riko, Manoli, Irini, Sun, MaoSen, Ciccone, Carla, Darvish, Daniel, Starost, Matthew F, Zerfas, Patricia M, Hoffmann, Victoria J, Hoogstraten-Miller, Shelley, Krasnewich, Donna M, Gahl, William A, Huizing, Marjan
Published in The Journal of clinical investigation (01.06.2007)
Published in The Journal of clinical investigation (01.06.2007)
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Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome
Krasnewich, D M, Holt, G D, Brantly, M, Skovby, F, Redwine, J, Gahl, W A
Published in Glycobiology (Oxford) (01.07.1995)
Published in Glycobiology (Oxford) (01.07.1995)
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Clinical and Biochemical Studies in an American Child with Sialuria
Krasnewich, D.M., Tietze, F., Krause, W., Pretzlaff, R., Wenger, D.A., Diwadkar, V., Gahl, W.A.
Published in Biochemical medicine and metabolic biology (01.02.1993)
Published in Biochemical medicine and metabolic biology (01.02.1993)
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Sialuria in a Portuguese Girl: Clinical, Biochemical, and Molecular Characteristics
Ferreira, Helena, Seppala, Raili, Pinto, Rui, Huizing, Marjan, Martins, Esmeralda, Braga, Ana Cristina, Gomes, Lourenco, Krasnewich, Donna M., Sa Miranda, M.Clara, Gahl, William A.
Published in Molecular genetics and metabolism (01.06.1999)
Published in Molecular genetics and metabolism (01.06.1999)
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Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
Sparks, Susan E, Ciccone, Carla, Lalor, Molly, Orvisky, Eduard, Klootwijk, Riko, Savelkoul, Paul J, Dalakas, Marinos C, Krasnewich, Donna M, Gahl, William A, Huizing, Marjan
Published in Glycobiology (Oxford) (01.11.2005)
Published in Glycobiology (Oxford) (01.11.2005)
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Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy
Gottlieb, Emily, Ciccone, Carla, Darvish, Daniel, Naiem-Cohen, Shahrouz, Dalakas, Marinos C., Savelkoul, Paul J., Krasnewich, Donna M., Gahl, William A., Huizing, Marjan
Published in Molecular genetics and metabolism (01.09.2005)
Published in Molecular genetics and metabolism (01.09.2005)
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Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features
Agarwal, Beamon, MD, Ahmed, Atif, MD, Rushing, Elisabeth J., MD, Bloom, Miriam, MD, Kadom, Nadja, MD, Vezina, Gilbert, MD, Krasnewich, Donna, MD, PhD, Santi, Mariarita, MD
Published in Human pathology (01.11.2007)
Published in Human pathology (01.11.2007)
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A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia
Tayebi, Nahid, Andrews, David Q, Park, Joseph K, Orvisky, Eduard, McReynolds, John, Sidransky, Ellen, Krasnewich, Donna M
Published in American journal of medical genetics (15.03.2002)
Published in American journal of medical genetics (15.03.2002)
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