Results 131 to 140 of about 7,599 (237)

Compound heterozygotes in hyperphenylalaninemia [PDF]

, 1984
K. Bartholom�, K. Olek, Friedrich K. Trefz   +2 more
openalex   +1 more source

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience. [PDF]

Orphanet J Rare Dis
Al Khudari R, Baqla S, Al Asmar D.
europepmc   +1 more source

TREATMENT OF HYPERPHENYLALANINEMIA V WITH TETRAHYDROBIOPTERIN (BH4) AND NEUROTRANSMITTER (NT) PRECURSORS [PDF]

, 1984
Carol L. Greene, Howard M. Cann, Sheldon Milstein, Seymour Kaufman, Kym F. Faull, Jack D. Barchas   +5 more
openalex   +1 more source

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre. [PDF]

Mol Genet Metab Rep
Al-Tai MR, Kareem AA, Saadi NW, Omran TB, Abdul Majeed BA, Ibrahim IF, Alattar LA.   +6 more
europepmc   +1 more source

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing. [PDF]

Biomedicines, 2023
Tendi EA, Morello G, Guarnaccia M, La Cognata V, Petralia S, Messina MA, Meli C, Fiumara A, Ruggieri M, Cavallaro S.   +9 more
europepmc   +1 more source

Diagnosing late-onset PKU in the shadow of refractory seizures. [PDF]

Radiol Case Rep
Awashra A, Neiroukh H, Milhem A, Hamdan D, Sarama A, Dweikat T, Hmeedan A, Khader S.   +7 more
europepmc   +1 more source

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening. [PDF]

Children (Basel), 2023
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Ibarra-González I, Fernández-Hernández L, Guillén-López S, López-Mejía L, Fernández-Lainez C.   +7 more
europepmc   +1 more source

Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia [PDF]

, 2001
J. Weglage, Michael Pietsch, Reinhold Feldmann, Hans-Georg Koch, Johannes Zschocke, Georg F. Hoffmann, Anja Muntau-Heger, Jonas Denecke, Per Guldberg, Flemming Güttler, Harald E. Möller, U. Wendel, Kurt Ullrich, Erik Harms   +13 more
openalex   +1 more source

873. Low Level Hepatocyte Repopulation Corrects Hyperphenylalaninemia in Murine Phenylketonuria [PDF]

, 2004
Cary O. Harding, Kelly Hamman, Heather D. Clark, Eugenio Montini, Muhsen Al-Dhalimy, Markus Grompe, Milton J. Finegold   +6 more
openalex   +1 more source

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria [PDF]

core   +1 more source