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Items: 1 to 20 of 67

1.
Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy.
T M Scott, W M Fyfe, D M Hart
Arch Dis Child. 1980 Aug; 55(8): 634–637. doi: 10.1136/adc.55.8.634
PMCID:
PMC1627052
SummaryPage BrowsePDF–702K
2.
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics
S. E. Waisbren, F. Rohr, V. Anastasoaie, M. Brown, D. Harris, A. Ozonoff, S. Petrides, A. Wessel, H. L. Levy
JIMD Rep. 2015; 21: 23–33. Published online 2015 Feb 25. doi: 10.1007/8904_2014_365
PMCID:
PMC4470942
AbstractArticlePDF–223K
3.
Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report
A. Pinto, M.F. Almeida, A. Cunha, C. Carmona, S. Rocha, A. Guimas, R. Ribeiro, C.R. Mota, E. Martins, A. MacDonald, J.C. Rocha
Mol Genet Metab Rep. 2017 Dec; 13: 105–110. Published online 2017 Oct 18. doi: 10.1016/j.ymgmr.2017.10.004
PMCID:
PMC5650649
AbstractArticlePDF–517K
4.
The New England Maternal PKU Project: identification of at-risk women.
S E Waisbren, L B Doherty, I V Bailey, F J Rohr, H L Levy
Am J Public Health. 1988 Jul; 78(7): 789–792. doi: 10.2105/ajph.78.7.789
PMCID:
PMC1350334
SummaryPage BrowsePDF–887K
5.
Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies.
S E Waisbren, S Shiloh, P St James, H L Levy
Am J Public Health. 1991 Mar; 81(3): 299–304. doi: 10.2105/ajph.81.3.299
PMCID:
PMC1405020
SummaryPage BrowsePDF–3.5M
6.
Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy
Teresa Martino, Celide Koerner, Gayane Yenokyan, Julie Hoover-Fong, Ada Hamosh
Mol Genet Metab. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Mol Genet Metab. 2013 May; 109(1): 3–8. Published online 2013 Feb 19. doi: 10.1016/j.ymgme.2013.02.009
PMCID:
PMC3639475
ArticlePDF–890K
7.
First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child
Hiromi Nyuzuki, Taro Yamazaki, Megumi Saito, Akira Ohtake
Mol Genet Metab Rep. 2019 Dec; 21: 100526. Published online 2019 Nov 1. doi: 10.1016/j.ymgmr.2019.100526
PMCID:
PMC6839020
AbstractArticlePDF–208K
8.
Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome
Jessica A. Scott Schwoerer, Lisa Obernolte, Sandra Van Calcar, Susan Heighway, Heather Bankowski, Phillip Williams, Gregory Rice
JIMD Rep. 2012; 6: 15–20. Published online 2012 Jan 31. doi: 10.1007/8904_2011_95
PMCID:
PMC3565668
AbstractArticlePDF–167K
9.
The Resource Mothers Program for Maternal Phenylketonuria.
P S St James, E Shapiro, S E Waisbren
Am J Public Health. 1999 May; 89(5): 762–764. doi: 10.2105/ajph.89.5.762
PMCID:
PMC1508738
SummaryPage BrowsePDF–1.3M
10.
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy
Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo
Orphanet J Rare Dis. 2021; 16: 477. Published online 2021 Nov 18. doi: 10.1186/s13023-021-02108-5
PMCID:
PMC8600879
AbstractArticlePDF–984K
11.
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
Ina Knerr, Johannes Zschocke, Stefan Schellmoser, Hans G Topf, Corina Weigel, Jörg Dötsch, Wolfgang Rascher
BMC Pediatr. 2005; 5: 5. Published online 2005 Apr 5. doi: 10.1186/1471-2431-5-5
PMCID:
PMC1079877
AbstractArticlePDF–590K
12.
Management of maternal phenylketonuria: an emerging clinical problem.
G M Komrower, I B Sardharwalla, J M Coutts, D Ingham
Br Med J. 1979 May 26; 1(6175): 1383–1387. doi: 10.1136/bmj.1.6175.1383
PMCID:
PMC1598961
SummaryPage BrowsePDF–985K
13.
Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects
Shoji Yano, Kathryn Moseley, Teodoro Bottiglieri, Erland Arning, Colleen Azen
J Inherit Metab Dis. Author manuscript; available in PMC 2022 Mar 2.
Published in final edited form as: J Inherit Metab Dis. 2014 Jan; 37(1): 39–42. Published online 2013 Jun 20. doi: 10.1007/s10545-013-9627-x
PMCID:
PMC8889884
AbstractArticlePDF–58K
14.
Follow up of fetal outcome in cases of maternal phenylketonuria in Northern Ireland
A Magee, K Ryan, A Moore, E Trimble
Arch Dis Child Fetal Neonatal Ed. 2002 Sep; 87(2): F141–F143. doi: 10.1136/fn.87.2.F141
PMCID:
PMC1721451
SummaryPDF–110K
15.
Protective Effect of Recombinant Adeno-Associated Virus 2/8-Mediated Gene Therapy from the Maternal Hyperphenylalaninemia in Offsprings of a Mouse Model of Phenylketonuria
Sung-Chul Jung, Joo-Won Park, Hyun-Jeong Oh, Jin-Ok Choi, Kyung-In Seo, Eun-Sook Park, Hae-Young Park
J Korean Med Sci. 2008 Oct; 23(5): 877–883. Published online 2008 Oct 30. doi: 10.3346/jkms.2008.23.5.877
PMCID:
PMC2580016
AbstractArticlePDF–581K
16.
Maternal Phenylketonuria (MPKU)
W.E. Schoonheyt, W.B. Hanley, J.T.R. Clarke, V. Austin, D.A. Howe
Can Fam Physician. 1986 Oct; 32: 2253, 2255, 2257-2258.
PMCID:
PMC2328240
SummaryPage BrowsePDF–793K
17.
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
P. Guldberg, H. L. Levy, W. B. Hanley, R. Koch, R. Matalon, B. M. Rouse, F. Trefz, F. de la Cruz, K. F. Henriksen, F. Güttler
Am J Hum Genet. 1996 Jul; 59(1): 84–94.
PMCID:
PMC1915123
SummaryPage BrowsePDF–1.9M
18.
Cell encapsulation as a potential nondietary therapy for maternal phenylketonuria
Donna A. Santillan, Mark K. Santillan, Stephen K. Hunter
Am J Obstet Gynecol. Author manuscript; available in PMC 2022 Mar 17.
Published in final edited form as: Am J Obstet Gynecol. 2009 Sep; 201(3): 289.e1–289.e6. Published online 2009 Jul 24. doi: 10.1016/j.ajog.2009.05.035
PMCID:
PMC8928171
AbstractArticlePDF–771K
19.
Psychosocial factors in maternal phenylketonuria: women's adherence to medical recommendations.
S E Waisbren, B D Hamilton, P J St James, S Shiloh, H L Levy
Am J Public Health. 1995 Dec; 85(12): 1636–1641. doi: 10.2105/ajph.85.12.1636
PMCID:
PMC1615717
SummaryPage BrowsePDF–1.6M
20.
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
S Kleiman, L Vanagaite, J Bernstein, G Schwartz, N Brand, A Elitzur, S L Woo, Y Shiloh
J Med Genet. 1993 Apr; 30(4): 284–288. doi: 10.1136/jmg.30.4.284
PMCID:
PMC1016333
SummaryPage BrowsePDF–916K

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