Results 101 to 110 of about 553,208 (143)

Promotion of nitric oxide production: mechanisms, strategies, and possibilities. [PDF]

Front Physiol
Gonzalez M, Clayton S, Wauson E, Christian D, Tran QK.   +4 more
europepmc   +1 more source

Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review. [PDF]

Nutrients
Jones H, Strehle EM.
europepmc   +1 more source

Clinical Phenotype Comparison in Polish Patient Cohorts with and Without Molecular Diagnosis of Dystonia. [PDF]

J Clin Med
Milanowski L, Jurek M, Salińska A, Podwysocka A, Figura M, Szlufik S, Geremek M, Nowak J, Szczałuba K, Hoffman-Zacharska D, Koziorowski D.   +10 more
europepmc   +1 more source

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

Clinical, Biochemical, and Radiologic Profiles of Filipino Patients with 6-Pyruvoyl-Tetrahydrobiopterin Synthase (6-PTPS) Deficiency and their Neurodevelopmental Outcomes. [PDF]

Acta Med Philipp
de Castro-Hamoy LG, Moral MALA, Calotes-Castillo LV, Abacan MAR, Cordero CP, Pagaspas MLC, Maceda EBG, Estrada SC, Chiong MAD.   +8 more
europepmc   +1 more source

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology. [PDF]

Mov Disord Clin Pract
Salazar-Villacorta A, Spaull R, Chowdhury S, Mukhtyar B, Chitre M, Armstrong R, Sa M, Chandratre S, Kini U, Chinthapalli R, Mankad K, Sudhakar S, Pope S, Heales S, Kurian MA.   +14 more
europepmc   +1 more source

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency
openaire   +1 more source

Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency. [PDF]

BMJ Case Rep
Boley G, Pierri J, Finegold D, Pan L.
europepmc   +1 more source

Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia. [PDF]

Heliyon
Wu R, Chen WT, Dou WK, Zhou HM, Shi M.
europepmc   +1 more source