Results 91 to 100 of about 669 (133)

Impact of gut probiotic metabolites on phenylketonuria. [PDF]

Front Cell Infect Microbiol
Kalla Veedu A, Vijayakumar S, Joseph HA, Thomas J.   +3 more
europepmc   +1 more source

Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia. [PDF]

Sisli Etfal Hastan Tip Bul
Yildiz SO, Mungan HNO, Kor D, Bulut FD, Yilmaz BS, Kilavuz S, Seydaoglu G.   +6 more
europepmc   +1 more source

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified. [PDF]

Int J Neonatal Screen
Wong TS, Wong SSN, Kwok AMK, Wu H, Law HF, Lam S, Yeung MCW, Chan TCH, Leung G, Mak CM, Belaramani KM, Fung CW.   +11 more
europepmc   +1 more source

Phenylalanine homeostasis in metabolic disorders: epidemiological trends, pathophysiological mechanisms, and clinical treatment. [PDF]

Front Endocrinol (Lausanne)
Chen Y, Lu S, Li C, Li Y, Qin C, He Y, Niu Y, Sun Q.   +7 more
europepmc   +1 more source

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening. [PDF]

Nutrients
Verduci E, Tosi M, Zuvadelli J, Giorda S, Biasucci G, Leuzzi V, Spada M, Burlina A, Dionisi Vici C, PKU Expert Group.   +9 more
europepmc   +1 more source

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

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

Nutrients
Consentino MC, La Spina L, Meli C, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +12 more
europepmc   +1 more source