Research & Literature

Committee opinion no: 636: Management of women with phenylketonuria.

Obstetrics and gynecology 2015; (125(6)):1548-1550 doi:10.1097/01.AOG.0000466372.63522.f0.

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Tao J, Li N, Jia H, et al.

Pediatric research 2015; (78(6)):691-9 doi:10.1038/pr.2015.167.

Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice.

van Vliet D, Bruinenberg VM, Mazzola PN, et al.

PloS one 2015; (10(12)):e0143833 doi:10.1371/journal.pone.0143833.

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Jeannesson-Thivisol E, Feillet F, Chéry C, et al.

Orphanet journal of rare diseases 2015; (10()):158 doi:10.1186/s13023-015-0375-x.

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

Khatami S, Dehnabeh SR, Zeinali S, et al.

JIMD reports 2017; (32()):7-14 doi:10.1007/8904_2016_572.

Nutritional status of patients with phenylketonuria in Japan.

Okano Y, Hattori T, Fujimoto H, et al.

Molecular genetics and metabolism reports 2016; (8()):103-10 doi:10.1016/j.ymgmr.2016.08.005.

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride.

Yildiz Y, Dursun A, Tokatli A, et al.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2017; (33(1)):19-20 doi:10.1080/09513590.2016.1247796.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, et al.

American journal of human genetics 2017; (100(2)):257-266 doi:10.1016/j.ajhg.2017.01.002.

Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran.

Setoodeh A, Yarali B, Rabbani A, et al.

Molecular genetics and metabolism reports 2015; (2()):77-79 doi:10.1016/j.ymgmr.2015.01.001.

Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.

Razipour M, Alavinejad E, Sajedi SZ, et al.

Metabolic brain disease 2017; (32(5)):1685-1691 doi:10.1007/s11011-017-0048-7.

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Chaiyasap P, Ittiwut C, Srichomthong C, et al.

BMC medical genetics 2017; (18(1)):102 doi:10.1186/s12881-017-0464-x.

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Blau N, Martinez A, Hoffmann GF, Thöny B

Molecular genetics and metabolism 2018; (123(1)):1-5 doi:10.1016/j.ymgme.2017.11.005.

Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria.

Didycz B, Bik-Multanowski M

Molecular genetics and metabolism reports 2018; (14()):80-82 doi:10.1016/j.ymgmr.2017.12.003.

Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

de Sain-van der Velden MGM, Kuper WFE, Kuijper MA, et al.

JIMD reports 2018; (42()):99-103 doi:10.1007/8904_2017_86.

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

Thomas J, Levy H, Amato S, et al.

Molecular genetics and metabolism 2018; (124(1)):27-38 doi:10.1016/j.ymgme.2018.03.006.

Children and adolescents with phenylketonuria display fluctuations in their blood phenylalanine levels.

Feldmann R, Schallert M, Nguyen T, et al.

Acta paediatrica (Oslo, Norway : 1992) 2019; (108(3)):541-543 doi:10.1111/apa.14517.

Exploring Drivers of Liking of Low-Phenylalanine Products in Subjects with Phenyilketonuria Using Check-All-That-Apply Method.

Proserpio C, Pagliarini E, Zuvadelli J, et al.

Nutrients 2018; (10(9)) doi:10.3390/nu10091179.

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

Shirzadeh T, Saeidian AH, Bagherian H, et al.

Journal of inherited metabolic disease 2018; (41(6)):1159-1167 doi:10.1007/s10545-018-0228-6.

Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.

Li L, Qin Y, Su Y, et al.

Journal of clinical laboratory analysis 2019; (33(2)):e22665 doi:10.1002/jcla.22665.

Pegvaliase: a novel treatment option for adults with phenylketonuria.

Mahan KC, Gandhi MA, Anand S

Current medical research and opinion 2019; (35(4)):647-651 doi:10.1080/03007995.2018.1528215.

Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.

MacDonald A, Singh RH, Rocha JC, van Spronsen FJ

Nutrition research reviews 2019; (32(1)):70-78 doi:10.1017/S0954422418000173.

The phenylketonuria patient: A recent dietetic therapeutic approach.

Manta-Vogli PD, Dotsikas Y, Loukas YL, Schulpis KH

Nutritional neuroscience 2020; (23(8)):628-639 doi:10.1080/1028415X.2018.1538196.

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

Gundorova P, Stepanova AA, Kuznetsova IA, et al.

PloS one 2019; (14(1)):e0211048 doi:10.1371/journal.pone.0211048.

The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability.

Khan CA, Meisburger SP, Ando N, Fitzpatrick PF

The Journal of biological chemistry 2019; (294(12)):4359-4367 doi:10.1074/jbc.RA118.006477.

Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency.

Blau N

Expert review of endocrinology & metabolism 2010; (5(4)):483-494 doi:10.1586/eem.10.39.

Phenylketonuria: Current Treatments and Future Developments.

Lichter-Konecki U, Vockley J

Drugs 2019; (79(5)):495-500 doi:10.1007/s40265-019-01079-z.

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.

Yıldız Y, Sivri HS

European journal of pediatrics 2019; (178(7)):1005-1011 doi:10.1007/s00431-019-03387-8.

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.

Muntau AC, Adams DJ, Bélanger-Quintana A, et al.

Molecular genetics and metabolism 2019; (127(1)):1-11 doi:10.1016/j.ymgme.2019.04.004.

Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial.

Eshraghi P, Noroozi Asl S, Bagheri S, Chalak V

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(8)):885-888.

A Comprehensive Review of Pegvaliase, an Enzyme Substitution Therapy for the Treatment of Phenylketonuria.

Hydery T, Coppenrath VA

Drug target insights 2019; (13()):1177392819857089 doi:10.1177/1177392819857089.

Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.

Evers RAF, van Vliet D, van Spronsen FJ

Journal of inherited metabolic disease 2020; (43(2)):189-199 doi:10.1002/jimd.12151.

Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy.

Hausmann O, Daha M, Longo N, et al.

Molecular genetics and metabolism 2019; (128(1-2)):84-91 doi:10.1016/j.ymgme.2019.05.006.

A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences.

SriBhashyam S, Marsh K, Quartel A, et al.

Molecular genetics and metabolism reports 2019; (21()):100507 doi:10.1016/j.ymgmr.2019.100507.

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments.

Ashe K, Kelso W, Farrand S, et al.

Frontiers in psychiatry 2019; (10()):561 doi:10.3389/fpsyt.2019.00561.

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

Rajabi F, Rohr F, Wessel A, et al.

Molecular genetics and metabolism 2019; (128(4)):415-421 doi:10.1016/j.ymgme.2019.09.004.

Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.

Suddaby JS, Sohaei D, Bell H, et al.

European journal of medical genetics 2020; (63(4)):103818 doi:10.1016/j.ejmg.2019.103818.

5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.

Levy H, Lamppu D, Anastosoaie V, et al.

Molecular genetics and metabolism 2020; (129(3)):177-185 doi:10.1016/j.ymgme.2019.12.007.

Improvement, cloning, and expression of an in silico designed protein enriched with large neutral amino acids in Pichia pastoris for possible application in phenylketonuria.

Appaiah P, Vasu P

Journal of food biochemistry 2020; (44(3)):e13151 doi:10.1111/jfbc.13151.

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.

Richards DY, Winn SR, Dudley S, et al.

Molecular therapy. Methods & clinical development 2020; (17()):234-245 doi:10.1016/j.omtm.2019.12.004.

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.

Pieragostino D, Cicalini I, Di Michele S, et al.

Metabolites 2020; (10(2)) doi:10.3390/metabo10020044.

Successful desensitization of Pegvaliase (Palynziq®) in a patient with phenylketonuria.

Patrawala M, Kuruvilla M, Li H

Molecular genetics and metabolism reports 2020; (23()):100575 doi:10.1016/j.ymgmr.2020.100575.

Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.

Obstetrics and gynecology 2020; (135(4)):987-988 doi:10.1097/AOG.0000000000003769.

A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.

Luu S, Breunig T, Drilias N, et al.

WMJ : official publication of the State Medical Society of Wisconsin 2020; (119(1)):37-43.

Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.

Caletti MT, Bettocchi I, Baronio F, et al.

Nutrition, metabolism, and cardiovascular diseases : NMCD 2020; (30(6)):977-983 doi:10.1016/j.numecd.2020.02.003.

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.

Burton BK, Longo N, Vockley J, et al.

Molecular genetics and metabolism 2020; (130(4)):239-246 doi:10.1016/j.ymgme.2020.06.006.

PKU dietary handbook to accompany PKU guidelines.

MacDonald A, van Wegberg AMJ, Ahring K, et al.

Orphanet journal of rare diseases 2020; (15(1)):171 doi:10.1186/s13023-020-01391-y.

Neonatal phenylalanine wash-out in phenylketonuria.

Porta F, Ponzone A, Spada M

Metabolic brain disease 2020; (35(7)):1225-1229 doi:10.1007/s11011-020-00602-6.

The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.

Burlina AP, Cazzorla C, Massa P, et al.

Nutrients 2020; (12(7)) doi:10.3390/nu12072078.

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Carducci C, Amayreh W, Ababneh H, et al.

JIMD reports 2020; (55(1)):59-67 doi:10.1002/jmd2.12130.

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.

Lowe TB, DeLuca J, Arnold GL

Orphanet journal of rare diseases 2020; (15(1)):266 doi:10.1186/s13023-020-01541-2.

Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.

Serdari AE, Zompola C, Evangeliou A

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(1)):127-130 doi:10.1515/jpem-2020-0243.

Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.

Tao R, Xiao L, Zhou L, et al.

Molecular therapy. Methods & clinical development 2020; (19()):507-517 doi:10.1016/j.omtm.2019.12.014.

Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.

Porta F, Giorda S, Ponzone A, Spada M

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(12)):1519-1523 doi:10.1515/jpem-2020-0319.

Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients.

Teruya KI, Remor E, Schwartz IVD

American journal of medical genetics. Part A 2021; (185(7)):1991-2002 doi:10.1002/ajmg.a.62195.

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.

Aubi O, Prestegård KS, Jung-Kc K, et al.

Nature communications 2021; (12(1)):2073 doi:10.1038/s41467-021-22107-1.

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Bozaci AE, Er E, Yazici H, et al.

JIMD reports 2021; (59(1)):42-51 doi:10.1002/jmd2.12199.

[Newborn screening of phenylketonuria in France].

Wiedemann A, Jeannesson É, Oussalah A, et al.

Medecine sciences : M/S 2021; (37(5)):468-473 doi:10.1051/medsci/2021061.

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.

Çıkı K, Yıldız Y, Yücel Yılmaz D, et al.

Metabolic brain disease 2021; (36(6)):1405-1410 doi:10.1007/s11011-021-00753-0.

Phenylketonuria.

van Spronsen FJ, Blau N, Harding C, et al.

Nature reviews. Disease primers 2021; (7(1)):36 doi:10.1038/s41572-021-00267-0.

Palynziq clinic: One year and 43 patients later.

Lah M, McPheron M

Molecular genetics and metabolism 2021; (133(3)):250-256 doi:10.1016/j.ymgme.2021.05.006.

The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.

Khani S, Barzegari M, Esmaeilizadeh Z, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(9)):1157-1167 doi:10.1515/jpem-2021-0155.

Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.

Puurunen MK, Vockley J, Searle SL, et al.

Nature metabolism 2021; (3(8)):1125-1132 doi:10.1038/s42255-021-00430-7.

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.

Muntau AC, Burlina A, Eyskens F, et al.

Orphanet journal of rare diseases 2021; (16(1)):341 doi:10.1186/s13023-021-01968-1.

Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry.

Kenneson A, Singh RH

Molecular genetics and metabolism 2021; (134(3)):243-249 doi:10.1016/j.ymgme.2021.10.001.

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.

Rohde C, Thiele AG, Baerwald C, et al.

Orphanet journal of rare diseases 2021; (16(1)):477 doi:10.1186/s13023-021-02108-5.

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.

Lotz-Havla AS, Weiß K, Schiergens K, et al.

Frontiers in neurology 2021; (12()):780624 doi:10.3389/fneur.2021.780624.

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.

Horák O, Burešová M, Kolář S, et al.

Epilepsy & behavior : E&B 2022; (128()):108564 doi:10.1016/j.yebeh.2022.108564.

The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion.

Biasucci G, Brodosi L, Bettocchi I, et al.

Molecular genetics and metabolism 2022; (136(2)):94-100 doi:10.1016/j.ymgme.2022.04.004.

Genetic etiology and clinical challenges of phenylketonuria.

Elhawary NA, AlJahdali IA, Abumansour IS, et al.

Human genomics 2022; (16(1)):22 doi:10.1186/s40246-022-00398-9.

Thermodynamics of iron, tetrahydrobiopterin, and phenylalanine binding to phenylalanine hydroxylase from Chromobacterium violaceum.

Li M, Subedi BP, Fitzpatrick PF, Emerson JP

Archives of biochemistry and biophysics 2022; (729()):109378 doi:10.1016/j.abb.2022.109378.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.

Grohmann-Held K, Burgard P, Baerwald CGO, et al.

Journal of inherited metabolic disease 2022; (45(6)):1070-1081 doi:10.1002/jimd.12544.

Present and future of lipid nanoparticle-mRNA technology in phenylketonuria disease treatment.

Diaz-Trelles R, Perez-Garcia CG

International review of cell and molecular biology 2022; (372()):159-174 doi:10.1016/bs.ircmb.2022.04.008.

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria.

Keskin FN, Şahin TÖ, Capasso R, Ağagündüz D

Clinical and experimental pediatrics 2023; (66(8)):320-331 doi:10.3345/cep.2022.00584.

The aromatic amino acid hydroxylases: Structures, catalysis, and regulation of phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase.

Fitzpatrick PF

Archives of biochemistry and biophysics 2023; (735()):109518 doi:10.1016/j.abb.2023.109518.

Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed.

Thoalnoon OA, Kareem AA, Hammoodi HZ

Archives of Razi Institute 2023; (78(2)):667-673 doi:10.22092/ARI.2022.359480.2431.

State-of-the-art 2023 on gene therapy for phenylketonuria.

Martinez M, Harding CO, Schwank G, Thöny B

Journal of inherited metabolic disease 2024; (47(1)):80-92 doi:10.1002/jimd.12651.

Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.

Bonfim-Freitas PE, Andrade RS, Ribeiro-Dos-Santos ÂK, Silva LCS

Molecular genetics & genomic medicine 2023; (11(10)):e2224 doi:10.1002/mgg3.2224.

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.

Alghamdi MA, O'Donnell-Luria A, Almontashiri NA, et al.

JIMD reports 2023; (64(5)):312-316 doi:10.1002/jmd2.12384.

Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.

Vockley J, Sondheimer N, Puurunen M, et al.

Nature metabolism 2023; (5(10)):1685-1690 doi:10.1038/s42255-023-00897-6.

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.

Nezhad SRK, Aligoodarzi PN, Rostami G, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2294 doi:10.1002/mgg3.2294.

[Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene].

Yang P, Sun Y, Wang X, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(3)):278-283 doi:10.3760/cma.j.cn511374-20210623-00532.

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.

Upadia J, Crivelly K, Noh G, et al.

Molecular genetics and metabolism reports 2024; (38()):101050 doi:10.1016/j.ymgmr.2024.101050.

Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.

Alavanda C, Ceylan Eİ, Kılavuz S, Çıkı K

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(6)):543-552 doi:10.1515/jpem-2024-0091.

Glycomacropeptide: A comprehensive understanding of its major biological characteristics and purification methodologies.

Ebrahimi A, Andishmand H, Huo C, et al.

Comprehensive reviews in food science and food safety 2024; (23(3)):e13370 doi:10.1111/1541-4337.13370.

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry.

Kenneson A, Borth MI, Singh RH

Molecular genetics and metabolism reports 2024; (39()):101092 doi:10.1016/j.ymgmr.2024.101092.

Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis.

Aguirre AS, Haro E, Campodónico A, et al.

Frontiers in nutrition 2024; (11()):1390133 doi:10.3389/fnut.2024.1390133.

Biochemical and biophysical approaches to characterization of the aromatic amino acid hydroxylases.

Fitzpatrick PF, Daubner SC

Methods in enzymology 2024; (704()):345-361 doi:10.1016/bs.mie.2024.05.009.

Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.

Brachet M, Charrière S, Douillard C, et al.

Journal of neurology 2024; (272(1)):53 doi:10.1007/s00415-024-12840-0.

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Consentino MC, La Spina L, Meli C, et al.

Nutrients 2025; (17(3)) doi:10.3390/nu17030379.

Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care-A Case Report.

Donarska J, Szablewska AW, Wierzba J

Journal of clinical medicine 2025; (14(4)) doi:10.3390/jcm14041102.

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Leone G, Meli C, Falsaperla R, et al.

Nutrients 2025; (17(4)) doi:10.3390/nu17040678.

Executive Functions and Long-Term Metabolic Control in Adults with Phenylketonuria (PKU).

Tomm A, Thiele AG, Rohde C, et al.

Metabolites 2025; (15(3)) doi:10.3390/metabo15030197.

Phenylketonuria as an Adherence Disease.

Reach G

Patient preference and adherence 2025; (19()):1059-1073 doi:10.2147/PPA.S512719.

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria.

Kahraman AB, Çıkı K, Poşul B, et al.

The Turkish journal of pediatrics 2025; (67(2)):175-185 doi:10.24953/turkjpediatr.2025.5263.

Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.

Klaassen K, Kecman B, Stankovic S, et al.

Scientific reports 2025; (15(1)):19745 doi:10.1038/s41598-025-04611-2.

Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhood.

Câmara B, Florindo C, de Lima CB, et al.

Frontiers in pediatrics 2025; (13()):1488809 doi:10.3389/fped.2025.1488809.

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.

Yuskiv N, Saad A, Potter BK, et al.

JIMD reports 2025; (66(5)):e70042 doi:10.1002/jmd2.70042.

Developing iPSC models from phenylketonuria patients with varying PAH gene mutations.

Veleva D, Chowdhury MM, Ay M, et al.

Stem cell research 2026; (90()):103885 doi:10.1016/j.scr.2025.103885.

Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study.

Giret C, Charrière S, Feillet F, et al.

Molecular genetics and metabolism 2026; (147(1)):109706 doi:10.1016/j.ymgme.2025.109706.