References
- van Spronsen FJ, Lachmann RH. Phenylketonuria and hyperphenylalaninemia. W: Inherited Metabolic Disease in Adults. A Clinical Guide. Red. CE Hollak i RH Lachmann, Oxford University Press 2016;85-91.
- Rohr F. Maternal Phenylketonuria. W: Nutritional Management of Inherited Metabolic Diseases: Lessons from Metabolic University, red.: LE Bernstein, Rohr F, Helm JR. Springer 2015;139-147.
- Dent CE. Discussion of paper by Dr MD Armstrong “& e relation of the biochemical abnormality to the development of the mental defect in phenylketonuria”. W: Etiologic factors in mental retardation: A symposium held at Chapel Hill, North Carolina, Nov. 8-9, 1956. Report of the 23-rd Ross Pediatric Research Conference. Columbus, OH: Ross Laboratories, 1957;32-33.
- Hozyasz KK. 80-lecie fenyloketonurii. Część III: Charles E. Dent – biochemik-naukowiec i klinicysta, który dostrzegł piętno choroby matki u potomstwa i zrutynizował badanie pro' lu aminokwasów. Pediatr Pol. 2017;92:352-359.
- Mabry CC, Denniston JC, Nelson TL, Son CD, Maternal phenylketonuria: a cause of mental retardation in children without the metabolic defect. N Engl J Med. 1963;269:1404-1408.
- Maillot F, Lilburn M, Baudin J, Morley DW, Lee PJ. Factors in* uencing outcomes in the o+spring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine. Am J Clin Nutr. 2008;88:700-705.
- Blehova B, Pazoutova N, Hejcmanova L, Milinicova A, Jirasek J. Triplets, 2 of which are twins with phenylketonuria. Cesk Pediatr. 1975;30:587-588.
- Norwitz ER, Edusa V, Park JS. Maternal physiology and complications of multiple pregnancy. Sem Perinatol. 2005;29:338-348.
- Kot A, Mironiuk A, Sawicki W, Piękosz-Orzechowska B. Ocena wzrostu wewnątrzmacicznego i powikłań neonatologicznych w populacji noworodków z ciąż bliźniaczych. Perinatol Neonatol Ginekol. 2009;2:57-61.
- Liu N, Kong XD, Wu QH, Li XL, GUO HF, Cui LX, Jiang M, Shi HR. Prenatal diagnosis of Chinese families with phenylketonuria. Genet Mol Res. 2015;14:14615-14628.
- Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation testing for phenylketonuria. Fertil Steril. 2001;76:346-349.
- American Academy of Pediatrics. Committee on Genetics. Maternal phenylketonuria. Pediatrics 2001;107:427-428.
- Koch R, Gross Friedman E, Wanz E, Jew K, Crowley C, Donnell G. Maternal phenylketonuria. J Inher Metab Dis. 1986;9 (Suppl 2):159-168.
- Hanley WB, Platt LD, Bachmann RP, Buist N, Geraghty MT, Isaacs J, et al. Undiagnosed maternal phenylketonuria: & e need for prenatal selective screening or case finding. Am J Obstet Gynecol. 1999;180:986-994.
- Antsaklis A, Souka AP, Daskalakis G, Kavalakis Y, Michalas S. Second-trimester amniocentesis vs. chorionic villus sampling for prenatal diagnosis in multiple gestations. Ultrasound Obstet Gynecol. 2002;20:476-481.
- Ng W-T, Rae A, Wright H, Wray J. Maternal phenylketonuria in Western Australia: pregnancy outcomes and developmental outcomes in offspring. J Paediatr Child Health 2003;39:358-363.
- Watts RW, Purkiss P, Chalmers RA. A new variant form of phenylketonuria. Q J Med. 1979;58:403-417.
- Brunner RL, Brown EH, Berry HK. Phenylketonuria revisited: Treatment of adults with behavioral manifestations. J Inher Metab Dis. 1987;10:171-173.
- Jancar J. Increased life expectancy in people with untreated phenylketonuria. J Intellect Disabil Res. 1998;42:97-99.
- Cowie V, Penrose LS. Dilution of hair colour in phenylketonuria. Ann Eugen. 1951;15:297-301.
- Herrlin K-M. A clinical and electroencephalographic study of a pair of monozygotic twins with phenylketonuria. Acta Paediatr. 1962;Suppl 135:88-96.
- Verkerk PH, van der Meer SB. Failure to detect phenylketonuria. Eur J Pediatr. 1995;154:163-168.
- Popescu T, Popescu A, Oltean L, et al. Retrospective neuropsychological evaluation of 18 Romanian subjects with hyperphenylalanaemia. Acta Paediatr. 2000;89:1503-1504.
- Bannick AA, Laufman JD, Edwards HL, Ventimiglia J, Feldman GL. Outcomes of referrals to Child Protective Services for medical neglect in patients with phenylketonuria: Experiences at a single treatment center. Mol Genet Metabol. 2015;115:151-156.
- Fox-Bacon C, McCamman S, & erou L, et al. Maternal PKU and breastfeeding: case report of identical twin mothers. Clin Pediatr. 1997;36:539-542.
- Fox C, Marquis J, Kipp DE. Nutritional factors a+ecting serum phenylalanine concentration during pregnancy for identical twin mothers with phenylketonuria. Acta Paediatr. 2000;89:947-950.
- Smith I, Erdohazi M, Wol+ OH, et al. Fetal damage despite low-phenylalanine diet a<er conception in phenylketonuric woman. Lancet 1979;1:17-19.
- Koch R, Verma S, Gilles F. Neuropathology of a 4-month-old infant born to a woman with phenylketonuria. Dev Med Child Neurol. 2008;50:230-233.
- Blomquist HK, Gustavson K-H, Holmgren G. Severe mental retardation in ' ve siblings due to maternal phenylketonuria. Neuropediatrics 1980;11:256-261.
- Levy HL, Kaplan GN, Erickson AM. Comparison of treated and untreated pregnancies in a mother with phenylketonuria. J Pediatr. 1982;100:876-880.
- Brenton DP, Lilburn M. Maternal phenylketonuria. A study from the United Kingdom. Eur J Pediatr. 1996;155(Suppl 1): S177-S180.
- Naughten E, Saul IP. Maternal phenylketonuria – the Irish experience. J Inher Metab Dis. 1990;13:658-664.
- Lee PJ, Ridout D, Walter JH, Cockburn F. Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Arch Dis Child. 2005;90:143-146.
- Levy HL, Lenke RR, Koch R. Lack of fetal effect on blood phenylalanine concentration in maternal phenylketonuria. J Pediatr. 1984;104:245-247.
- Kohlschütter B, Ellerbrok M, Merkel M, Tchirikov M, Zschocke J, Santer R, Ulrich K. Phenylalanine tolerance in three phenylketonuric women pregannat with fetuses of di+erent genetic status. J Inherit Metab Dis. 2009;32 (Suppl. 1):S1-S4.
- World Health Organization. WHO child growth standards: height-for-age, weight-for-length, weight-for-height and body mass index-for-age: methods and development. Geneva 2006.
- Zhang J, Mikolajczyk R, Lei X, Sun L, Yu H, Cheng W. An adjustable fetal weight standard for twins: a statistical modeling study. BMC Medicine 2015;13:159.
- Kato N, Matsuda T. & e relationship between birthweight discordance and perinatal mortality of one of the twins in a twin pair. Twin Res Hum Genet. 2006;9:292-297.
- Canpolat FE, Yurdakok M, Korkmaz A, Yigit S, Tekinalp G. Birthweight discordance in twins and the risk of being heavier for respiratory distress syndrome. Twin Res Hum Genet. 2006;9:659-663.
- Sierzputowska-Pieczara M, Kosińska M, Gadzinowski J. Projekt DOM – ogólnopolskie siatki centylowe dla bliźniąt. Post Neonatol. 2015;21:9-12.
- Buckler JM, Green M. Birth weight and head circumference standards for English twins. Arch Dis Child. 1994;71:516-521.
- Didycz B, Domagała L, Pietrzyk JJ. Zespół fenyloketonurii matczynej – problem nadal aktualny. Przegl Lek. 2009;66:4-10.
- Szymański S, Malinowski W, Ronin-Walknowska E. Rodzaj popłodu a urodzeniowa masa ciała bliźniąt. Med Wieku Rozwoj. 2010;14:378-383.
- Abbas A, Sebire NJ, Johnson M, Bersinger N, Nicolaides KH. Maternal serum concentrations of pregnancy associated placental protein A and pregnancy speci' c beta-1-glycoprotein in multifetal pregnancies before and a<er fetal reduction. Hum Reprod. 1996;11:900-902.
- Chen H-J, Huang L-W, Lin Y-H, Seow K-M, et al. Midtrimester maternal serum inhibin A levels a<er multifetal pregnancy reduction. Prenatal Diagn. 2007;27:431-434.
- Moore T, Dveksler GS. Pregnancy specific glycoproteins: complex gene families regulating maternal-fetal interactions. Int J Dev Biol. 2014;58:273-280.
- Ogueh O, Hawkins PA, Abbas A, Carter DG, Nicalides KH, Johnson MR. Maternal thyroid function in multifetal pregnancies before and a<er fetal reduction. J Endocrinol. 2000;164:7-11.
- Hinz MK, M K, Kinne A, Schlein R, Kohrle J, Krause G. Structural insights into thyroid hormone transport mechanisms of the L-type amino acid transporter 2. Mol Endocrinol. 2015;29:933-942.
- Augustyn E, Finke K, Zur AA, Hansen L, Heeren N, et al. LAT-1 activity of meta-substituted phenylalanine and tyrosine analogs. Bioorg Med Chem Lett. 2016;26:2616-2621.
- Yamada T, Kawaguchi S, Araki N, Takeda M, et al. Difference in the D-dimer rise between women with singleton and multifetal pregnancies. Thrombosis Res. 2013;131:493-496.
- Pueschel SM, Hum C, Andrews M. Nutritional management of the female with phenylketonuria during pregnancy. Am J Clin Nutr. 1977;30:1153-1161.
- MacDonald A, Ahring K, Alemeida MF, Belanger-Quitana A, Blau N, Burlina A, et al. & e challenges of managing coexistent disorders with phenylketonuria: 30 cases. Mol Genet Met. 2015;116:242-251.
- Smith I, Glossop J, Beasley M. Fetal damage due to maternal phenylketonuria: E+ects of dietary treatment and maternal phenylalanine concentrations around the time of conception. J Inher Metab Dis. 1990;13:651-657.
- Brouwers MM, Feitz WF, Roelofs LA, Kiemeney LA, de Gier RP, Roeleveld N. Risk factors for hypospadias. Eur J Pediatr. 2007;166:671-678.
- Visser R, Burger NC, van Zwet EW, Hilhorst-Hofstee Y, Haak MC, van den Hoek J, Oepkes D, Lapriore E. Higher incidence of hypospadias in monochorionic twins. Twin Res Hum Genet. 2015;18:591-594.
- Hadidi AT, Roessler J, Coerdt W. Development of the human male urethra: A histochemical study on human embryos. J Pediatr Surg. 2014;49:1146-1152.
- Riese ML, Swift HM, Barnes SL. Newborn twin outcome predicted by maternal variables: differentiation by term and sex. Twin Res 2003;6:12-18.
- Simoes T, Cordeiro A, Julio C, Reis J, Dias E, Blickstein I. Perinatal outcome and change in body mass index in mothers of dichorionic twins: A longitudinal cohort study. Twin Res Hum Genet. 2008;11:219-223.