Autosomal dominant GTP cyclohydrolase I deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Autosomal dominant GTP cyclohydrolase I deficiency" in English language version.

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Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K (February 2022). "Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review". Movement Disorders. 37 (2): 237–252. doi:10.1002/mds.28874. PMID 34908184. S2CID 245260405.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O (May 2020). "Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883. PMID 32456656.
Dayasiri, Kavinda Chandimal; Suraweera, Nayani; Nawarathne, Deepal; Senanayake, U. E.; Dayanath, B. K. T. P.; Jasinge, Eresha; Weerasekara, Kumudu (2019-06-15). "GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case report". BMC Pediatrics. 19 (1): 199. doi:10.1186/s12887-019-1580-x. ISSN 1471-2431. PMC 6570886. PMID 31202265.

Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K (February 2022). "Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review". Movement Disorders. 37 (2): 237–252. doi:10.1002/mds.28874. PMID 34908184. S2CID 245260405.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O (May 2020). "Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883. PMID 32456656.
Dayasiri, Kavinda Chandimal; Suraweera, Nayani; Nawarathne, Deepal; Senanayake, U. E.; Dayanath, B. K. T. P.; Jasinge, Eresha; Weerasekara, Kumudu (2019-06-15). "GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case report". BMC Pediatrics. 19 (1): 199. doi:10.1186/s12887-019-1580-x. ISSN 1471-2431. PMC 6570886. PMID 31202265.

Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O (May 2020). "Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883. PMID 32456656.
Dayasiri, Kavinda Chandimal; Suraweera, Nayani; Nawarathne, Deepal; Senanayake, U. E.; Dayanath, B. K. T. P.; Jasinge, Eresha; Weerasekara, Kumudu (2019-06-15). "GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case report". BMC Pediatrics. 19 (1): 199. doi:10.1186/s12887-019-1580-x. ISSN 1471-2431. PMC 6570886. PMID 31202265.

Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K (February 2022). "Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review". Movement Disorders. 37 (2): 237–252. doi:10.1002/mds.28874. PMID 34908184. S2CID 245260405.

Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K (February 2022). "Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review". Movement Disorders. 37 (2): 237–252. doi:10.1002/mds.28874. PMID 34908184. S2CID 245260405.