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There are 55285 results for: content related to: Reading through nonsense as therapy for propionic acidemia?

  1. Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 142C, Issue 2, 15 May 2006, Pages: 95–103, Jerry Vockley and Regina Ensenauer

    Article first published online : 6 APR 2006, DOI: 10.1002/ajmg.c.30089

  2. Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review

    Pediatric Transplantation

    Volume 10, Issue 7, November 2006, Pages: 773–781, Neal R. Barshes, Jason M. Vanatta, Akash J. Patel, Beth A. Carter, Christine A. O'Mahony, Saul J. Karpen and John A. Goss

    Article first published online : 5 JUL 2006, DOI: 10.1111/j.1399-3046.2006.00569.x

  3. You have free access to this content
    Prediction of acidemia at birth by Doppler assessment of fetal cerebral transverse sinus in pregnancies with placental insufficiency

    Ultrasound in Obstetrics & Gynecology

    Volume 33, Issue 2, February 2009, Pages: 188–192, M. M. Barbosa, F. H. C. Carvalho, E. Araujo Júnior, L. M. M. Nardozza, R. M. Santana, M. R. Torloni and A. F. Moron

    Article first published online : 6 OCT 2008, DOI: 10.1002/uog.6130

  4. Glutaric acidemia type 1

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 142C, Issue 2, 15 May 2006, Pages: 86–94, Gary L. Hedlund, Nicola Longo and Marzia Pasquali

    Article first published online : 6 APR 2006, DOI: 10.1002/ajmg.c.30088

  5. Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 973–980, Rocío Sánchez-Alcudia, Belén Pérez, Magdalena Ugarte and Lourdes R. Desviat

    Article first published online : 16 APR 2012, DOI: 10.1002/humu.22047

  6. 1H-NMR Studies of Urine in Propionic Acidemia and Methylmalonic Acidemia

    Pediatrics International

    Volume 33, Issue 2, April 1991, Pages: 139–145, Soichi Kodama, Makiko Sugiura, Hideto Nakao, Ken Kobayashi, Mari Miyoshi, Katsuhiko Yoshii, Mikio Komatsu and Takashi Sakurai

    Article first published online : 9 OCT 2007, DOI: 10.1111/j.1442-200X.1991.tb01534.x

  7. Stable Mixed Acidemia in Anesthetized Pigs—A Model for Research on Biocompatibility of Hemofilters Under a Deteriorated Acid-Base Balance

    Artificial Organs

    Volume 35, Issue 2, February 2011, Pages: 192–196, Martin Russ, Vera Esche, Sascha Ott, Janis Bedarf and Juliane K. Unger

    Article first published online : 14 OCT 2010, DOI: 10.1111/j.1525-1594.2010.01053.x

  8. Ductus venosus versus cerebral transverse sinus Doppler velocimetry for predicting acidemia at birth in pregnancies complicated by placental insufficiency

    Prenatal Diagnosis

    Volume 33, Issue 12, December 2013, Pages: 1146–1151, Manoel Martins Neto, Francisco Herlânio Costa Carvalho, Maurício Mendes Barbosa, Rosa Maria Salani Mota, Denise Teixeira de Menezes, Carlos Geraldo Viana Murta, Renato Martins Santana and Antonio Fernandes Moron

    Article first published online : 1 SEP 2013, DOI: 10.1002/pd.4208

  9. METHYLMALONIC ACIDEMIA A Disorder Associated with Acidosis, Hyperglycinemia, and Hyperlactatemia

    Acta Paediatrica

    Volume 57, Issue 5, September 1968, Pages: 417–424, Bengt Lindblad, Bo S. Lindblad, Patrick Olin, Börje Svanberg and Rolf Zetterström

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1968.tb07314.x

  10. Pitfalls in the prenatal diagnosis of propionic acidemia

    Clinical Genetics

    Volume 18, Issue 3, September 1980, Pages: 177–183, P. D. Buchanan, S. G. Kahler, L. Sweetman and W. L. Nyhan

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1980.tb00867.x

  11. POOR NUTRITIONAL STATUS AND INFLAMMATION: Metabolic Acidosis and Malnutrition-Inflammation Complex Syndrome in Chronic Renal Failure

    Seminars in Dialysis

    Volume 17, Issue 6, November 2004, Pages: 455–465, Kamyar Kalantar-Zadeh, Rajnish Mehrotra, Denis Fouque and Joel D. Kopple

    Article first published online : 9 DEC 2004, DOI: 10.1111/j.0894-0959.2004.17606.x

  12. Living-donor liver transplantation for propionic acidemia

    Pediatric Transplantation

    Volume 16, Issue 3, May 2012, Pages: 230–234, Mureo Kasahara, Seisuke Sakamoto, Hiroyuki Kanazawa, Chiaki Karaki, Toshihiko Kakiuchi, Takanobu Shigeta, Akinari Fukuda, Rika Kosaki, Atsuko Nakazawa, Mika Ishige, Masayoshi Nagao, Yosuke Shigematsu, Tohru Yorifuji, Yasuhiro Naiki and Reiko Horikawa

    Article first published online : 7 DEC 2011, DOI: 10.1111/j.1399-3046.2011.01607.x

  13. You have free access to this content
    Identification of novel mutations in the PCCB gene in European propionic acidemia patients

    Human Mutation

    Volume 14, Issue 1, 1999, Pages: 89–90, Silvia Muro, Pilar Rodríguez-Pombo, Belén Pérez, Celia Pérez-Cerdá, Lourdes R. Desviat, Wolfgang Sperl, Daniela Skladal, Jörn Oliver Sass and Magdalena Ugarte

    Article first published online : 1 JUL 1999, DOI: 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5

  14. ABNORMAL PATTERNS OF URINE AND SERUM AMINO ACIDS IN METHYLMALONIC ACIDEMIA

    Acta Paediatrica

    Volume 59, Issue 1, January 1970, Pages: 28–32, S. HALVORSEN, O. STOKKE and L. ELDIARN

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1970.tb15510.x

  15. You have free access to this content
    Relationship between fetal acidemia at cordocentesis and subsequent neurodevelopment

    Ultrasound in Obstetrics & Gynecology

    Volume 2, Issue 2, 1 March 1992, Pages: 80–83, Dr P. W. Soothill, R. A. Ajayi, S. Campbell, E. M. Ross, D. C. A. Candy, R. M. Snijders and K. H. Nicolaides

    Article first published online : 5 MAR 2003, DOI: 10.1046/j.1469-0705.1992.02020080.x

  16. Glutaric acidemia (type I)

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 2, Issue 3, 1996, Pages: 155–159, Stephen I. Goodman and Barbara J. Biery

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2779(1996)2:3<155::AID-MRDD6>3.0.CO;2-R

  17. Gestational age-related reference values for amniotic fluid organic acids

    Prenatal Diagnosis

    Volume 30, Issue 1, January 2010, Pages: 43–48, C. Ottolenghi, N. Abermil, A. Lescoat, J. Aupetit, O. Beaugendre, N. Morichon-Delvallez, D. Ricquier, B. Chadefaux-Vekemans and D. Rabier

    Article first published online : 30 NOV 2009, DOI: 10.1002/pd.2414

  18. You have free access to this content
    P10.30: Transverse cerebral sinus Doppler velocimetry in the prediction of birth acidemia

    Ultrasound in Obstetrics & Gynecology

    Volume 26, Issue 4, September 2005, Page: 446, M. M. Barbosa, A. F. Moron, F. H. C. Carvalho, C. G. V. Murta, R. M. Santana, M. R. Torloni and R. Mattar

    Article first published online : 8 SEP 2005, DOI: 10.1002/uog.2493

  19. A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysis

    Mass Spectrometry Reviews

    Volume 15, Issue 1, 1996, Pages: 43–57, I. Matsumoto and T. Kuhara

    Article first published online : 21 DEC 1998, DOI: 10.1002/(SICI)1098-2787(1996)15:1<43::AID-MAS3>3.0.CO;2-B

  20. Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant

    Pediatric Diabetes

    Volume 13, Issue 6, September 2012, Pages: e22–e25, A Guven, N Cebeci, A Dursun, EH Aktekin, MR Baumgartner and B Fowler

    Article first published online : 5 MAY 2011, DOI: 10.1111/j.1399-5448.2011.00784.x