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1Academic Journal
المؤلفون: E. A. Shestopalova
المصدر: Лечащий Врач, Vol 0, Iss 10, Pp 72-75 (2024)
مصطلحات موضوعية: hereditary metabolic diseases, hyperphenylalaninemia, phenylketonuria, screening, maternal phenylketonuria syndrome, specialized therapeutic nutrition product, hypophenylalanine diet, Medicine (General), R5-920
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Beatriz Ugalde-Abiega, Sinziana Stanescu, Amaya Belanger, Mercedes Martinez-Pardo, Francisco Arrieta
المصدر: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023)
مصطلحات موضوعية: Phenylketonuria, Maternal phenylketonuria syndrome, Pregnancy, Nutritional therapy, Case Report, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1752-1947
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3Academic Journal
المؤلفون: Nielsen, Maja Risager, Jørgensen, Christine, Ahring, Kirsten, Lund, Allan Meldgaard, Ørngreen, Mette Cathrine
المصدر: Nielsen , M R , Jørgensen , C , Ahring , K , Lund , A M & Ørngreen , M C 2023 , ' The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria ' , Journal of Inherited Metabolic Disease , vol. 46 , no. 4 , pp. 586-594 . https://doi.org/10.1002/jimd.12600
مصطلحات موضوعية: children outcome, follow-up, maternal phenylketonuria, phenylalanine, phenylketonuria, pregnancy
وصف الملف: application/pdf
الاتاحة: https://researchprofiles.ku.dk/da/publications/the-impact-of-phenylalanine-levels-during-pregnancy-on-birth-weight-and-later-development-in-children-born-to-women-with-phenylketonuria(4da61b92-49f4-47f5-9b1d-49dc6c3987c7).html
https://doi.org/10.1002/jimd.12600
https://curis.ku.dk/ws/files/362461581/J_of_Inher_Metab_Disea_2023_Nielsen.pdf -
4Academic Journal
المؤلفون: Lin Wang, Fang Ye, Hui Zou, Kundi Wang, Zhihua Chen, Qin Hui, Bingjuan Han, Chun He, Xiaowen Li, Ming Shen
المصدر: BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Maternal phenylketonuria, Dietary treatment, Pregnancy, Offspring outcomes, Sapropterin dihydrochloride, BH4, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Sestito, Simona, Brodosi, Lucia, Ferraro, Stefania, Carella, Rosa, De Giovanni, Donatella, Mita, Dorina, Moretti, Michele, Moricca, Maria Teresa, Concolino, Daniela, Tummolo, Albina
المساهمون: Sestito, Simona, Brodosi, Lucia, Ferraro, Stefania, Carella, Rosa, De Giovanni, Donatella, Mita, Dorina, Moretti, Michele, Moricca, Maria Teresa, Concolino, Daniela, Tummolo, Albina
مصطلحات موضوعية: Maternal phenylketonuria, PKU, dietary control, metabolic control, pregnancy
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/38651794; info:eu-repo/semantics/altIdentifier/wos/WOS:001206502600001; volume:N/A; firstpage:N/A; lastpage:N/A; numberofpages:11; journal:NUTRITION AND HEALTH; https://hdl.handle.net/11585/972359; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85191320935
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6Academic Journal
المؤلفون: Joanna Żółkowska, Kamil Konrad Hozyasz, Maria Nowacka
المصدر: Pediatria i Medycyna Rodzinna, Vol 14, Iss 1, Pp 47-53 (2018)
مصطلحات موضوعية: phenylketonuria, phenylalanine hydroxylase, low-phenylalanine diet, maternal phenylketonuria, Medicine
وصف الملف: electronic resource
Relation: http://www.pimr.pl/index.php/issues/2018-vol-14-no-1/prevention-of-maternal-phenylketonuria-dietary-management-in-the-preconception-period-and-during-pregnancy?aid=1160; https://doaj.org/toc/1734-1531; https://doaj.org/toc/2451-0742
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7Academic Journal
المؤلفون: 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
المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 105-110 (2017)
مصطلحات موضوعية: Maternal phenylketonuria, Glycomacropeptide, l-Amino acids, Phenylalanine, Tyrosine, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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8Academic Journal
المؤلفون: Muntau, Ania C., Adams, Darius J., Belanger-Quintana, Amaya, Bushueva, Tatiana V., Cerone, Roberto, Chien, Yin-Hsiu, Chiesa, Ana, Coskun, Turgay, de las Heras, Javier, Feillet, Francois, Katz, Rachel, Lagler, Florian, Piazzon, Flavia, Rohr, Fran, van Spronsen, Francjan J., Vargas, Paula, Wilcox, Gisela, Bhattacharya, Kaustuv
المصدر: Muntau , A C , Adams , D J , Belanger-Quintana , A , Bushueva , T V , Cerone , R , Chien , Y-H , Chiesa , A , Coskun , T , de las Heras , J , Feillet , F , Katz , R , Lagler , F , Piazzon , F , Rohr , F , van Spronsen , F J , Vargas , P , Wilcox , G & Bhattacharya , K 2019 , ' International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria ' , Molecular ....
مصطلحات موضوعية: Tetrahydrobiopterin, Phenylalanine, Phenylketonuria, Response, Pregnancy, Sapropterin dihydrochloride, PHENYLALANINE-HYDROXYLASE DEFICIENCY, TETRAHYDROBIOPTERIN LOADING TEST, LONG-TERM TREATMENT, MATERNAL PHENYLKETONURIA, ADULT PATIENTS, BASE-LINE, PKU, DIAGNOSIS, BH4, HYPERPHENYLALANINEMIA
وصف الملف: application/pdf
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9Dissertation/ Thesis
المؤلفون: Benčić, Jelena
المساهمون: Petković Ramadža, Danijela
مصطلحات موضوعية: dijeta, fenilalanin, fenilketonurija, maternalna fenilketonurija, trudnoća, Diet, Maternal Phenylketonuria, Phenylalanine, Phenylketonuria, Pregnancy, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Pedijatrija, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Pediatrics
وصف الملف: application/pdf
Relation: https://zir.nsk.hr/islandora/object/mef:6762; https://urn.nsk.hr/urn:nbn:hr:105:704978; https://repozitorij.unizg.hr/islandora/object/mef:6762; https://repozitorij.unizg.hr/islandora/object/mef:6762/datastream/PDF
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10eBook
المؤلفون: Berry, Susan A., author, Markowitz, Dorothy, author, Leslie, Nancy D., author
المصدر: Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders : Prevention, Assessment, and Treatment, 2017, ill.
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11Academic Journal
المؤلفون: van Spronsen, Francjan J., van Wegberg, Annemiek M. J., Ahring, Kirsten, Belanger-Quintana, Amaya, Blau, Nenad, Bosch, Annet M., Burlina, Alberto, Campistol, Jaime, Feillet, Francois, Gizewska, Maria, Huijbregts, Stephan C., Kearney, Shauna, Leuzzi, Vincenzo, Maillot, Francois, Muntau, Ania C., Trefz, Fritz K., van Rijn, Margreet, Walter, John H., MacDonald, Anita
المصدر: van Spronsen , F J , van Wegberg , A M J , Ahring , K , Belanger-Quintana , A , Blau , N , Bosch , A M , Burlina , A , Campistol , J , Feillet , F , Gizewska , M , Huijbregts , S C , Kearney , S , Leuzzi , V , Maillot , F , Muntau , A C , Trefz , F K , van Rijn , M , Walter , J H & MacDonald , A 2017 , ' Key European guidelines for the diagnosis and management of patients ....
مصطلحات موضوعية: QUALITY-OF-LIFE, CONTINUOUSLY TREATED PHENYLKETONURIA, PHENYLALANINE-RESTRICTED DIET, MATERNAL PHENYLKETONURIA, MILD HYPERPHENYLALANINEMIA, BLOOD PHENYLALANINE, LONG-TERM, PLASMA PHENYLALANINE, INTERNATIONAL SURVEY, SERUM PHENYLALANINE
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: S. Sh. Yafarova, R. F. Shavaliev, S. Ja. Volgina, С. Ш. Яфарова, Р. Ф. Шавалиев, С. Я. Волгина
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 62, № 5 (2017); 124-129 ; Российский вестник перинатологии и педиатрии; Том 62, № 5 (2017); 124-129 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2017-62-5
مصطلحات موضوعية: неонатальный скрининг, phenylketonuria, maternal phenylketonuria, prophylaxis, neonatal screening, фенилкетонурия, материнская фенилкетонурия, профилактика
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/562/549; Постановление Правительства РФ № 403 от 26.04.2012 г. «О порядке ведения Федерального регистра лиц, страдающих жизнеугрожающими и хроническими прогрессирующими редкими (орфанными) заболеваниями, приводящими к сокращению продолжительности жизни граждан или их инвалидности, и его регионального сегмента». http://www.rg.ru/pril/66/76/35/403_perechen.gif (дата последнего обращения 26.06.2017 г. [Resolution of the Government of the Russian Federation № 403 of 26.04.2012 «On the order of the Federal Register of persons suffering from life-threatening and chronic progressive rare (orphan) diseases that lead to a reduction in life expectancy of citizens or their disability and its regional segment». http://www.rg.ru/pril/66/76/35/403_perechen.gif ( accessed 26.06.2017). (in Russ)]; Федеральный закон №323-ФЗ от 21.11.2011 г. «Об основах охраны здоровья граждан в Российской Федерации». http://www.rosminzdrav.ru/documents/7025- federalnyyzakon-323-fz-ot21-noyabrya-2011-g (дата последнего обращения 26.06.2017 г.) [Federal Law of November 21, 2011 № 323-FZ «On the Basis of Health Protection in the Russian Federation». http://www.rosminzdrav.ru/documents/7025-federalnyy-zakon-323-fz- ot21-noyabrya-2011-g ( accessed 26.06.2017) (in Russ)]; Радзинский В.Е., Пустотина О.А., Верижникова Е.В., Дикке Г.Б., Иловайская И.А., Курмачева Н.А. и др. Прегравидарная подготовка: клинический протокол. М: Редакция журнала Status Praesens 2016; 80. [Radzinskij V.E., Pustotina O.A., Verizhnikova E.V., Dikke G.B., Ilovajskaja I.A., Kurmachjova N.A. et al. Preconception Care: clinical protocol. Moscow: Redakcija zhurnala Status Praesens 2016; 80. (in Russ)]; Жученко Л.А., Касимовская Н.А., Якушина И.И. Медико-генетическое консультирование и профилактика врожденной и наследственной патологии в Российской Федерации. Проблемы социальной гигиены, здравоохранения и истории медицины 2015; 23 (6): 38–40. [Juchenko L.A., Kasimovskaia N.A., Yakushina I.I. The medical genetic counseling and prevention of inborn and congenital pathology in the Russian Federation. Problemi socialnoi gigieni, zdravookhranenia i istorii meditsini 2015; 23 (6): 38– 40. (in Russ)]; Приказ МЗ РФ № 457 от 30.12.2000 г. «О совершенствовании пренатальной диагностики в профилактике врожденных и наследственных заболеваний у детей». http://docs.cntd.ru/document/901781668 (дата последнего обращения 26.06.2017 г.) [Order of the Ministry of Health of the Russian Federation of 30.12.2000, № 457 «On the improvement of prenatal diagnosis in the prevention of congenital and hereditary diseases in children». http://docs.cntd.ru/document/901781668 (accessed 26.06.2017). (in Russ)]; Приказ МЗ РФ от 01.11.2012 г. № 572н «Об утверждении Порядка оказания медицинской помощи по профилю "акушерство и гинекология (за исключением использования вспомогательных репродуктивных технологий)". http://base.garant.ru/70352632/ (дата последнего обращения 26.06.2017 г.) [The order of the Ministry of Health of the Russian Federation of 01.11.2012 № 572n « On Approval of the Procedure for the provision of medical assistance in the field of obstetrics and gynecology (with the exception of the use of assisted reproductive technologies)». http://base.garant.ru/70352632/ (accessed 26.06.2017). (in Russ)]; Приказ МЗ и СР РФ № 185 от 22.03.2006 г. «О массовом обследовании новорожденных детей на наследственные заболевания». http://docs.cntd.ru/document/901974446 (дата последнего обращения 26.06.2017) [The order of the Ministry of Health and the Social Development of the Russian Federationof 22.03.2006 № 185 «On the examination of newborn for hereditary diseases». http://docs.cntd.ru/document/901974446 (accessed 26.06.2017). (in Russ)]; Байдакова Г.В., Захарова Е.Ю., Канивец И.В., Коновалов Ф.А., Стрельников В.В., Куцев С.И. Диагностика врожденных и наследственных болезней у детей: достижения и перспективы развития. Вестник Росздравнадзора 2016; 3: 27–33. [Baidakova G.V., Zakharova E.Yu., Kanivets I.V., Konovalov F.A., Strelnikov V.V., Kutsev S.I. Diagnosis of congenital and hereditary diseases in children: advancements and prospects for development. Vestnik Roszdravnadzora 2016; 3: 27–33. (in Russ)]; Van Spronsen F.J., A.M.J. van Wegberg, Ahring K., Bélanger-Quintana A., Blau N., Bosch A.M. Key European guidelines for the diagnosis and management of patients with phenylketonuria. The Lancet Diabetes Endocrinol 2017; 1–14. pii: S2213-8587(16)30320-5. DOI:10.1016/S2213-8587(16)30320-5.; https://www.ped-perinatology.ru/jour/article/view/562
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13Academic Journal
المؤلفون: Kristina Štuikienė, Dalia Stonienė, Jūratė Buinauskienė, Aušrelė Kudrevičienė, Eglė Markūnienė, Rasa Tamelienė
المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 2, Iss 1, Pp 90-92 (2013)
مصطلحات موضوعية: phenylketonuria, maternal phenylketonuria, microcephaly, psychomotor development, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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14
المصدر: Pediatria i Medycyna Rodzinna, Vol 14, Iss 1, Pp 47-53 (2018)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pregnancy, medicine.medical_specialty, low-phenylalanine diet, business.industry, Obstetrics, Period (gene), lcsh:R, phenylketonuria, Dietary management, nutritional and metabolic diseases, phenylalanine hydroxylase, lcsh:Medicine, maternal phenylketonuria, medicine.disease, Pediatrics, Perinatology and Child Health, Medicine, Maternal phenylketonuria, Family Practice, business, health care economics and organizations
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15
المؤلفون: R. F. Shavaliev, S. Ja. Volgina, S. Sh. Yafarova
المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 62, Iss 5, Pp 124-129 (2017)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Diet therapy, medicine.medical_treatment, phenylketonuria, Prenatal diagnosis, Disease, maternal phenylketonuria, RJ1-570, Epilepsy, children, Medicine, neonatal screening, Maternal phenylketonuria, health care economics and organizations, Rehabilitation, business.industry, nutritional and metabolic diseases, Secondary prophylaxis, medicine.disease, Sick child, nervous system diseases, Pediatrics, Perinatology and Child Health, prophylaxis, business
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16
المؤلفون: Xiaowen Li, Hui Zou, Ming Shen, Qin Hui, Fang Ye, Kundi Wang, Lin Wang, Zhihua Chen, Bingjuan Han, Chun He
المصدر: BMC Pregnancy and Childbirth
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-8 (2020)مصطلحات موضوعية: Adult, medicine.medical_specialty, Offspring outcomes, China, Phenylketonuria, Maternal, Offspring, Phenylalanine, Reproductive medicine, Sapropterin dihydrochloride, lcsh:Gynecology and obstetrics, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Neonatal Screening, Pregnancy, 030225 pediatrics, Medicine, Humans, lcsh:RG1-991, Newborn screening, BH4, business.industry, Obstetrics, Infant, Newborn, Pregnancy Outcome, Obstetrics and Gynecology, Gestational age, Disease Management, Maternal Nutritional Physiological Phenomena, medicine.disease, Biopterin, Diet, Dietary treatment, Pregnancy Complications, Low birth weight, Metabolic control analysis, Female, medicine.symptom, business, Weight gain, Maternal phenylketonuria, 030217 neurology & neurosurgery, Research Article
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17
المؤلفون: Toshihiro Ohura, Masaki Takayanagi, Fumio Endo, Masafumi Matuo, Yoichi Matsubara, Torayuki Okuyama, Yoshiyuki Okano, Kimitoshi Nakamura, Haruo Shintaku, Hiroyuki Ida, Makoto Yoshino, Tetsuya Ito, Shigeo Kure, Misao Owada
المصدر: Pediatrics international : official journal of the Japan Pediatric SocietyReferences. 63(1)
مصطلحات موضوعية: inorganic chemicals, Pediatrics, medicine.medical_specialty, Phenylketonuria, Maternal, Phenylalanine hydroxylase, Phenylalanine, 030204 cardiovascular system & hematology, Blood phenylalanine, 03 medical and health sciences, 0302 clinical medicine, Hyperphenylalaninemia, Japan, Pregnancy, 030225 pediatrics, Phenylketonurias, medicine, Humans, heterocyclic compounds, Maternal phenylketonuria, Tetrahydrobiopterin deficiency, biology, business.industry, Phenylalanine Hydroxylase, Tetrahydrobiopterin, medicine.disease, Biopterin, Phenotype, Pediatrics, Perinatology and Child Health, cardiovascular system, biology.protein, Female, business, circulatory and respiratory physiology, medicine.drug
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18
المؤلفون: Roshni Vara, Carol R Munyame, Amanda Freeman, Nirmala Vaithilingam, Yusof Rahman
المصدر: The Obstetrician & Gynaecologist. 20:231-236
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, Pregnancy, Obstetrics, business.industry, medicine, Maternal phenylketonuria, 030105 genetics & heredity, medicine.disease, business
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19Academic Journal
المؤلفون: MacDonald, Anita, Ahring, Kirsten, Dokoupil, Katharina, Gokmen-Ozel, Hulya, Lammardo, Anna Maria, Motzfeldt, Kristina, Rocha, Julio Cesar, van Rijn, Margreet, Belanger-Quintana, Amaya, Robert, M.
المصدر: MacDonald , A , Ahring , K , Dokoupil , K , Gokmen-Ozel , H , Lammardo , A M , Motzfeldt , K , Rocha , J C , van Rijn , M , Belanger-Quintana , A & Robert , M 2011 , ' Adjusting diet with sapropterin in phenylketonuria : what factors should be considered? ' , British Journal of Nutrition , vol. 106 , no. 2 , pp. 175-182 . https://doi.org/10.1017/S0007114511000298
مصطلحات موضوعية: Phenylketonuria, Sapropterin, Phenylalanine, Nutrition, Inherited metabolic disorders, LONG-TERM TREATMENT, TETRAHYDROBIOPTERIN LOADING TEST, PKU PATIENTS, RESPONSIVE PHENYLKETONURIA, MATERNAL PHENYLKETONURIA, CHILDREN, HYPERPHENYLALANINEMIA, DIHYDROCHLORIDE, BH4
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/a213ee73-ba5a-4935-bdb4-121582bdce4a
https://research.rug.nl/en/publications/a213ee73-ba5a-4935-bdb4-121582bdce4a
https://doi.org/10.1017/S0007114511000298
https://pure.rug.nl/ws/files/67130142/adjusting_diet_with_sapropterin_in_phenylketonuria_what_factors_should_be_considered.pdf -
20Academic Journal
المؤلفون: Didycz, Bożena, Domagała, Lucyna, Pietrzyk, Jacek J.
مصطلحات موضوعية: fenyloketonuria (PKU), hiperfenyloalaninemia (HPA), fenyloketonuria matczyna (PKU matczyna), fenyloalanina (phe), phenylketonuria (PKU), hyperphenylalaninemia (HPA), maternal phenylketonuria (MPKU), phenylalanine (phe)
Relation: Przegląd Lekarski, T. 66, nr 1-2, s. 4-10; https://ruj.uj.edu.pl/xmlui/handle/item/273872