Search Results - "POMPONIO, R. J"

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype by KROOS, M. A, POMPONIO, R. J, HALLEY, D. J. J, VAN DER PLOEG, A. T, REUSER, A. J. J, HAGEMANS, M. L, KEULEMANS, J. L. M, PHIPPS, M, DERISO, M, PALMER, R. E, AUSEMS, M. G. E. M, VAN DER BEEK, N. A. M. E, VAN DIGGELEN, O. P

“…Pompe disease (acid maltase deficiency, glycogen storage disease type II; OMIM 232300) is an autosomal recessive lysosomal storage disorder characterized by…”
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Novel mutations cause biotinidase deficiency in Turkish children by Pomponio, R. J., Coskun, T., Demirkol, M., Tokatli, A., Ozalp, I., Hüner, G., Baykal, T., Wolf, B.

“…Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening…”
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Two clinical forms of glycogen-storage disease type II in two generations of the same family by Amartino, H, Painceira, D, Pomponio, RJ, Niizawa, G, Sabio Paz, V, Blanco, M, Chamoles, N

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Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children by NORRGARD, K. J, POMPONIO, R. J, HYMES, J, WOLF, B

“…Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism that can lead to varying degrees of neurologic and cutaneous symptoms when…”
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Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations by Pomponio, R.J., Cabrera-Salazar, M.A., Echeverri, O.Y., Miller, G., Barrera, L.A.

“…Gaucher disease is the most common of the lysosomal storage disorders, affecting all ethnic groups. The pathology of this recessively inherited disease arises…”
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Novel mutations in children with profound biotinidase deficiency from Saudi Arabia by Pomponio, R. J., Ozand, P. T., Al Essa, M., Wolf, B.

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Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children : Molecular, biochemical, and clinical analysis by POMPONIO, R. J, HYMES, J, REYNOLDS, T. R, MEYERS, G. A, FLEISCHHAUER, K, BUCK, G. A, WOLF, B

“…Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin. The disorder can cause…”
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Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients by Palermo, A.T., Palmer, R.E., So, K.S., Oba-Shinjo, S.M., Zhang, M., Richards, B., Madhiwalla, S.T., Finn, P.F., Hasegawa, A., Ciociola, K.M., Pescatori, M., McVie-Wylie, A.J., Mattaliano, R.J., Madden, S.L., Marie, S.K.N., Klinger, K.W., Pomponio, R.J.

“…Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to…”
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Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency by Pomponio, R.J, Reynolds, T.R, Cole, H, Buck, G.A, Wolf, B

“…Biotinidase deficiency is an autosomal recessive inherited disorder that is characterized by neurological and cutaneous symptoms. Biotinidase-deficient…”
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Delayed-onset profound biotinidase deficiency by Wolf, Barry, Pomponio, Robert J., Norrgard, Karen J., Lott, Ira T., Baumgartner, E.Regula, Suormala, Terttu, Ramaekers, Vincent Th, Coskun, Turgay, Tokatli, Aysegul, Ozalp, Imran, Hymes, Jeanne

“…Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We describe four children who had symptoms later in childhood…”
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Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3′ Splice Acceptor Site Within an Exon of the Human Biotinidase Gene by Pomponio, Robert J., Reynolds, Thomas R., Mandel, Hanna, Admoni, Osnat, Melone, Pamela D., Buck, Gregory A., Wolf, Barry

“…Biotinidase recycles the vitamin biotin from biocytin upon the degradation of the biotin-dependent carboxylases. We have identified a novel point mutation…”
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The sex ratio of normal and manipulated human sperm quantitated by the polymerase chain reaction by Lobel, S M, Pomponio, R J, Mutter, G L

“…To establish the primary sex ratio, the relative abundance of X and Y chromosome-bearing sperm, in unselected sperm and in sperm selected by swim-up or…”
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Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children by POMPONIO, R. J, NORRGARD, K. J, HYMES, J, REYNOLDS, T. R, BUCK, G. A, BAUMGARTNER, R, SUORMALA, T, WOLF, B

“…Biotinidase deficiency is an autosomal recessively inherited disorder in the recycling of the vitamin biotin. The most common mutation that causes profound…”
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Mutation in a Putative Glycosylation Site (N489T) of Biotinidase in the Only Known Japanese Child with Biotinidase Deficiency by Pomponio, Robert J., Yamaguchi, Akihiro, Arashima, Shinichiro, Hymes, Jeanne, Wolf, Barry

“…The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase…”
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Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses by Pomponio, R. J., Hymes, J., Pandya, A., Landa, B., Melone, P., Javaheri, R., Mardach, R., Morton, S. W., Meyers, G. A., Reynolds, T., Buck, G., Nance, W. E., Wolf, B.

“…Biotinidase deficiency is characterized by neurological and cutaneous abnormalities that can be prevented or ameliorated by oral biotin therapy. A child with…”
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Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR by MUTTER, G. L, POMPONIO, R. J

“…Numeric sex chromosome imbalances, or aneuploidies, are present in several pathological conditions including tumors, abnormal gestations, and clinical…”
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Sex chromosome composition of complete hydatidiform moles: relationship to metastasis by Mutter, G L, Pomponio, R J, Berkowitz, R S, Genest, D R

“…Complete hydatidiform moles have a substantial risk for subsequent development of persistent or metastatic gestational trophoblastic tumor. We evaluated the…”
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Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblast by MUTTER, G. L, STEWART, C. L, CHAPONOT, M. L, POMPONIO, R. J

“…Human uniparental gestations such as gynogenetic ovarian teratomas and androgenetic complete hydatidiform moles provide a model to evaluate the integrity of…”
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Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online by Norrgard, K J, Pomponio, R J, Swango, K L, Hymes, J, Reynolds, T, Buck, G A, Wolf, B

“…Biotinidase deficiency is inherited as an antosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and…”
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Testis-specific expression of the human MYCL2 gene by ROBERTSON, N. G, POMPONIO, R. J, MUTTER, G. L, MORTON, C. C

“…We have characterized the expression of MYCL2, an intronless X-linked gene related to MYCL1. RNase protection analysis of a panel of human normal and tumor…”
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