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Journal Article
Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef 
ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert
(2020).
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromusc. Disord., 30 (7).
S. 583 - 590.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364
Kozich, Viktor ORCID: 0000-0001-5820-5277, Schwahn, Bernd C., Sokolova, Jitka, Krizkova, Michaela, Ditroi, Tamas, Krijt, Jakub ORCID: 0000-0002-1738-654X, Khalil, Youssef ORCID: 0000-0001-9025-3017, Krizek, Tomas, Vaculikova-Fantlova, Tereza, Stiburkova, Blanka, Mills, Philippa, Clayton, Peter, Barvikova, Kristyna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, Garcia-Cazorla, Angeles, Haack, Tobias B., Honzik, Tomas, Jesina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, Rene, Schwarz, Guenter and Nagy, Peter
(2022).
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Redox Biol., 58.
AMSTERDAM:
ELSEVIER.
ISSN 2213-2317