Results 191 to 200 of about 6,578 (240)

Extended Lombardy's Neonatal Screening Dataset. [PDF]

Sci Data
Lopiano G, Alberti L, Cereda C, Cabitza F.   +3 more
europepmc   +1 more source

Metabolic Disruptions and Non-Communicable Disease Risks Associated with Long-Term Particulate Matter Exposure in Northern Thailand: An NMR-Based Metabolomics Study. [PDF]

Biomedicines
Jaikang C, Konguthaithip G, Amornlertwatana Y, Autsavapromporn N, Rattanachitthawat S, Liampongsabuddhi N, Monum T.   +6 more
europepmc   +1 more source

Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience [PDF]

, 2018
Abu Seda, Bettina, Blau, Nenad, Hoffmann, Georg, Opladen, Thomas, Rassi, Anahita, Thöny, Beat   +5 more
core  

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase. [PDF]

Int J Mol Sci
Mohamed FE, Alzyoud L, Ghattas MA, Tabouni M, Fienemann A, Trinh J, Baydoun I, Kizhakkedath P, Alblooshi H, Shaukat Q, Amouri R, Farrer MJ, Sassi SB, Al-Jasmi F.   +13 more
europepmc   +1 more source

7-Substituted Pterins: Formation in Carbinolamine Dehydratase Deficiency [PDF]

, 2017
Adler, C., Curtius, H.-C, Küster, T., Rebrin, I.   +3 more
core  

Clinical and Basic Research on Dopa-Responsive Dystonia: Neuropathological and Neurochemical Findings. [PDF]

Juntendo Med J
Furukawa Y.
europepmc   +1 more source

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria [PDF]

, 2018
Blau, Nenad, Kern, Ilse, Kierat, Lucja, Opladen, Thomas, Thöny, Beat, Zurflüh, Marcel   +5 more
core  

Integrated chemical exposome-metabolome profiling of follicular fluid and associations with fertility outcomes during assisted reproduction. [PDF]

Environ Int
Young AS, Gennings C, Braselton ME, Mullins CE, Jariwala P, Liang D, Spencer JB, Smith AK, Hipp H, Shang W, Abhari S, Knight AK, Gaskins AJ, Walker DI.   +13 more
europepmc   +1 more source

6-Pyruvoyl Tetrahydropterin Synthase in Human Tissues and Cell Lines [PDF]

, 2017
Blau, N., Guzman, J.
core