Results 91 to 100 of about 6,013 (134)

Current state of the treatment landscape of phenylketonuria. [PDF]

Orphanet J Rare Dis
Nulmans I, Lequeue S, Desmet L, Neuckermans J, De Kock J.   +4 more
europepmc   +1 more source

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Sahira, Hujjat SFZ, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study. [PDF]

Orphanet J Rare Dis
Bahtiri L, Jørgensen C, Ahring K, Rasmussen H, Hermansen JM, Fjellbirkeland OW, Lund AM, Ørngreen MC.   +7 more
europepmc   +1 more source

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source

Psychometric validation of the NIH Toolbox for use with individuals with phenylketonuria: Evidence from the PHEFREE consortium longitudinal study. [PDF]

J Int Neuropsychol Soc
Tardiff CT, Christ SE, White DA, Dixon MM, Goodlett BD, Janzen DM, Kivel M, Martin A, Sutcliffe MS, Harding CO.   +9 more
europepmc   +1 more source

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes. [PDF]

Neurol Genet
Manti F, Ricciardi G, Nardecchia F, Tolve M, Artiola C, Carbone MT, Carducci C, Mei D, Porta F, Ortolano R, Candela E, Burlina A, Guerrini R, Pisani F, Angeloni A, Leuzzi V.   +15 more
europepmc   +1 more source

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

Seeking stability for gene addition in inborn errors of metabolism. [PDF]

Mol Ther Nucleic Acids
von Beck T, Koeberl DD.
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