Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Barbara Cheng"'
Autor:
Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet, Amy Pender, In collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of treatment through newbo
Externí odkaz:
https://doaj.org/article/1b98183cdc9642988c4908da010160cd
Autor:
Barbara Cheng, Alette Giezen, Keiko Ueda, Sylvia Stockler-Ipsiroglu, Ramona Salvarinova, Rajavel Elango, Abrar Turki
Publikováno v:
The Journal of Nutrition. 147:211-217
Background Phenylketonuria is characterized by mutations in the Phe hydroxylase gene that leads to the accumulation of Phe in plasma and the brain. The standard of care for phenylketonuria is nutritional management with dietary restriction of Phe and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd4264e8b783b1fddc58d1e67c79a2d
https://doi.org/10.3945/jn.116.240218
https://doi.org/10.3945/jn.116.240218
Autor:
Barbara Cheng, Gayathri Murthy, Abrar Turki, Sylvia Stockler-Ipsiroglu, Rajavel Elango, Keiko Ueda, Alette Giezen
Publikováno v:
Molecular Genetics and Metabolism. 115:78-83
Background Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of hepatic phenylalanine hydroxylase (PAH) leading to increased levels of phenylalanine in the plasma. Phenylalanine levels and phenylalanine hydroxylase (PAH) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1169111fbdbef73359e078363d2dec6b
https://doi.org/10.1016/j.ymgme.2015.04.005
https://doi.org/10.1016/j.ymgme.2015.04.005
Autor:
Barbara Cheng, Alette Giezen, Keiko Ueda, Sylvia Stockler-Ipsiroglu, Delia Apatean, Nataliya Yuskiv, Ramona Salvarinova, Gloria Ho, Yolanda Lillquist
Publikováno v:
Molecular Genetics and Metabolism. 114(3):409-414
We analyzed long-term sustainability of improved blood Phenylalanine (Phe) control and changes to dietary Phe tolerance in 11 patients (1 month to 16 years), with various forms of primary PAH deficiency (classic, moderate, severe phenylketonuria [PKU
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eed77b9504312960544e70421f24697a
Autor:
Eva Yap-Todos, Hilary Vallance, Alette Giezen, Gabriella Horvath, Sylvia Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, Barbara Cheng, Yolanda Lillquist, Carol Hartnett
Publikováno v:
Molecular Genetics and Metabolism. 108:255-258
We are reporting a retrospective review of blood phenylalanine (Phe) concentrations in 33 patients with classical phenylketonuria (PKU) born between 1991 and 2009 and continuously followed up in our clinic in 2009. As an indicator of blood Phe contro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7272877d6a8ae8d1dd2d1e05226a54d4
https://doi.org/10.1016/j.ymgme.2013.01.007
https://doi.org/10.1016/j.ymgme.2013.01.007
Autor:
Keiko Ueda, Gloria Ho, Jeff Joa, Barbara Cheng, Clara D.M. van Karnebeek, Roderick F.A. Houben, Alette Giezen
Publikováno v:
Molecular genetics and metabolism, 117(3), 322-327. Academic Press Inc.
Background: An increasing number of rare inborn errors of metabolism (IEMs) are amenable to targeted metabolic nutrition therapy. Daily adherence is important to attain metabolic control and prevent organ damage. This is challenging however, given th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b1250c79f6fcf9868123f11d5b97c28
https://pure.amc.nl/en/publications/metabolic-diet-app-suite-for-inborn-errors-of-amino-acid-metabolism(7699ab62-024a-4779-bb58-add923cf220a).html
https://pure.amc.nl/en/publications/metabolic-diet-app-suite-for-inborn-errors-of-amino-acid-metabolism(7699ab62-024a-4779-bb58-add923cf220a).html
Publikováno v:
The FASEB Journal. 29
Phenylketonuria (PKU) is an inherited inborn error of phenylalanine (PHE) metabolism caused by deficiency of the hepatic enzyme, phenylalanine hydroxyls (PAH). Therefore PHE accumulates in plasma l...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d01977c896d66bf0f243e439145ea631
https://doi.org/10.1096/fasebj.29.1_supplement.742.9
https://doi.org/10.1096/fasebj.29.1_supplement.742.9
Autor:
Anibh M. Das, Nanda Verhoeven, Levinus A. Bok, Alette Giezen, U. Meyer, Renata C. Gallagher, Monique Albersen, Sidney M. Gospe, Clara D.M. van Karnebeek, Hans Hartmann, Barbara Cheng, Sravan Jaggumantri, Curtis R. Coughlin, Barbara Plecko, Sylvia Stockler-Ipsiroglu, Wahla Al-Hertani, Gloria Ho, Peter Baxter, Birgit Assmann, Daniela Buhas, Philippa B. Mills, Eduard A. Struys, Johan Van Hove, Keiko Ueda
Publikováno v:
JIMD Reports ISBN: 9783662437506
van Karnebeek, C D, Stockler-Ipsiroglu, S, Jaggumantri, S, Assmann, B, Baxter, P, Bushas, D, Bok, L A, Cheng, B, Coughlin, C R, Das, A M, Giezen, A, Al-Hertani, W, Ho, G, Meyer, U, Mills, P, Plecko, B, Struys, E A, Ueda, K, Albersen, M, Verhoeven, N, Gospe, S M J, Gallagher, R C, Van Hove, J K & Harmann, H 2014, ' Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations ', JIMD Reports, vol. 15, pp. 1-11 . https://doi.org/10.1007/8904_2014_296
JIMD Reports, 15, 1-11. Springer Berlin
JIMD Reports, 47-57
STARTPAGE=47;ENDPAGE=57;TITLE=JIMD Reports
van Karnebeek, C D, Stockler-Ipsiroglu, S, Jaggumantri, S, Assmann, B, Baxter, P, Bushas, D, Bok, L A, Cheng, B, Coughlin, C R, Das, A M, Giezen, A, Al-Hertani, W, Ho, G, Meyer, U, Mills, P, Plecko, B, Struys, E A, Ueda, K, Albersen, M, Verhoeven, N, Gospe, S M J, Gallagher, R C, Van Hove, J K & Harmann, H 2014, ' Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations ', JIMD Reports, vol. 15, pp. 1-11 . https://doi.org/10.1007/8904_2014_296
JIMD Reports, 15, 1-11. Springer Berlin
JIMD Reports, 47-57
STARTPAGE=47;ENDPAGE=57;TITLE=JIMD Reports
Background: Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability (IQ < 70) despite seizure control. An observational study showed t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a85d938e17e7f7f3bc1c693b927b42
https://doi.org/10.1007/8904_2014_296
https://doi.org/10.1007/8904_2014_296
Autor:
Alette Giezen, Sylvia Stockler, Keiko Ueda, Ramona Salvarinova, Gloria Ho, Hilary Vallance, Barbara Cheng, Clara D.M. van Karnebeek, Graham Sinclair
Publikováno v:
Clinical Biochemistry. 47:149-150
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f3a0f4fc76fc012a2662751597f255d
https://doi.org/10.1016/j.clinbiochem.2014.07.075
https://doi.org/10.1016/j.clinbiochem.2014.07.075
Autor:
Yolanda Lillquist, Delia Apatean, Barbara Cheng, Nataliya Yuskiv, Keiko Ueda, Ramona Salvarinova, Alette Giezen, Sylvia Stockler-Ipsiroglu
Publikováno v:
Clinical Biochemistry. 47:138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07ce330dc5017d2678c423ae0f1dab66
https://doi.org/10.1016/j.clinbiochem.2014.07.041
https://doi.org/10.1016/j.clinbiochem.2014.07.041