Search Results - "Kurczynski, T W"

Reproductive fitness in maternal homocystinuria due to cystathionine β‐synthase deficiency by Levy, H. L., Vargas, J. E., Waisbren, S. E., Kurczynski, T. W., Roeder, E. R., Schwartz, R. S., Rosengren, S., Prasad, C., Greenberg, C. R., Gilfix, B. M., MacGregor, D., Shih, V. E., Bao, L., Kraus, J. P.

“…Early diagnosis and improved treatment are leading to the potential for increased reproductive capability in homocystinuria due to cystathionine β‐synthase…”
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Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease by Shelley, E D, Shelley, W B, Kurczynski, T W

“…Generalized anhidrosis with heat collapse, painful fingers, and angiokeratomas were the presenting signs in a 23-year-old man who was shown by enzyme studies…”
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Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1 by Theisen, A., Rosenfeld, J.A., Shane, K., McBride, K.L., Atkin, J.F., Gaba, C., Hoo, J., Kurczynski, T.W., Schnur, R.E., Coffey, L.B., Zackai, E.H., Schimmenti, L., Friedman, N., Zabukovec, M., Ball, S., Pagon, R., Lucas, A., Brasington, C.K., Spence, J.E., Sparks, S., Banks, V., Smith, W., Friedberg, T., Wyatt, P.R., Aust, M., Tervo, R., Crowley, A., Skidmore, D., Lamb, A.N., Ravnan, B., Sahoo, T., Schultz, R., Torchia, B.S., Sgro, M., Chitayat, D., Shaffer, L.G.

“…Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual…”
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Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome by Kurczynski, T W, Casperson, S M

“…A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth…”
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Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3 by Nesslinger, N J, Gorski, J L, Kurczynski, T W, Shapira, S K, Siegel-Bartelt, J, Dumanski, J P, Cullen, Jr, R F, French, B N, McDermid, H E

“…We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients…”
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Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food by Yannicelli, Steven, Acosta, Phyllis B, Velazquez, Antonio, Bock, Hans-Georg, Marriage, Barbara, Kurczynski, Thaddeus W, Miller, Marvin, Korson, Mark, Steiner, Robert D, Rutledge, Lane, Bernstein, Laurie, Chinsky, Jeffrey, Galvin-Parton, Patricia, Arnold, Georgianne L

“…Background: Failure-to-thrive (FTT) has been described in patients with organic acidemias treated with low protein diets. Objective: To determine if patients…”
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Metabolic studies of carnitine in a child with propionic acidemia by KURCZYNSKI, T. W, HOPPEL, C. L, GOLDBLATT, P. J, GUNNING, W. T

“…Carnitine metabolism was studied in a 7-y-old boy with propionic acidemia due to an almost total deficiency of propionyl-CoA carboxylase. The initial diagnosis…”
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Hereditary cutis marmorata telangiectatica congenita by Kurczynski, T W

“…A patient with cutis marmorata telangiectatica congenita inherited in an autosomal dominant manner is described. The variable expression of this condition and…”
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Evaluation of the Health Belief Model and decision making regarding amniocentesis in women of advanced maternal age by French, B N, Kurczynski, T W, Weaver, M T, Pituch, M J

“…The Health Belief Model (HBM) was developed as an attempt to explain an individual's decision regarding obtaining preventive health care. This model was…”
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Head-upright tilt table testing in evaluation of recurrent, unexplained syncope by Grubb, B P, Orecchio, E, Kurczynski, T W

“…Recurrent syncope is one of the most common problems referred to the pediatric neurologist for evaluation. Traditional evaluations are time consuming and…”
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Long-term L-carnitine treatment in isovaleric acidemia by Mayatepek, E, Kurczynski, T W, Hoppel, C L

“…A 5-year-old girl with isovaleric acidemia was treated with long-term L-carnitine and no supplemental glycine. Clinical and laboratory data are presented…”
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A case of de novo trisomy 12p syndrome by Tayel, S, McCorquodale, M M, Rutherford, T, Kurczynski, T W, Abdel-Aziz, A M, el-Gabaldy, F, Sharaf, E A

“…A case of pure 12p trisomy was discovered in a 14-year-old boy during a cytogenetic survey of Egyptian students attending a school for mentally retarded…”
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size by Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R

“…Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. We indentified 27 deletions and 18…”
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Studies of a family with incontinentia pigmenti variably expressed in both sexes by Kurczynski, T W, Berns, J S, Johnson, W E

“…A family is described in which incontinentia pigmenti (IP) is variably expressed in both sexes, compatible with either autosomal dominant or X linked dominant…”
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Elevated maternal serum α-fetoprotein values: how low is high? by LENKE, R. R, GUERRIERI, J, NEMES, J. M, KURCZYNSKI, T. W, FRENCH, B, GRAY, M, SCHUT, H, ASHWOOD, E. R

“…Most maternal serum alpha-fetoprotein (MSAFP) screening programs are set up with the goal of prenatal detection of fetal neural tube defects. It is also…”
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Carnitine deficiency associated with ornithine transcarbamylase deficiency by Mayatepek, E, Kurczynski, T W, Hoppel, C L, Gunning, W T

“…An infant with X-linked recessive ornithine transcarbamylase deficiency is described who also had severe deficiency of plasma and liver carnitine during…”
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Neonatal encephalopathy in two boys in families with recurrent Rett syndrome by Schanen, N C, Kurczynski, T W, Brunelle, D, Woodcock, M M, Dure, 4th, L S, Percy, A K

“…Rett syndrome (RTT) has been described in its classic form only in females. Although the majority of cases are sporadic, familial cases give valuable insight…”
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Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia by Gyure, K A, Kurczynski, T W, Gunning, W, French, B N

“…Two siblings are reported with an autosomal recessive syndrome characterized by hair and skin abnormalities, hypoplastic nails, generalized hypotonia, absent…”
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Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging by Persutte, W H, Lenke, R R, Kurczynski, T W, Brinker, R A

“…A case of Pena-Shokeir syndrome type I was diagnosed prenatally with ultrasonography and magnetic resonance imaging (MRI) in a woman with a possible previous…”
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Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging by Persutte, W H, Kurczynski, T W, Chaudhuri, K, Lenke, R R, Woldenberg, L, Brinker, R A

“…A case of fetal autosomal dominant microcephaly was prenatally diagnosed with ultrasonography in a woman with previously undiagnosed microcephaly. At the time…”
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