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1 . Academic Journal
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches
저자
by
Himmelreich, Nastassja
;
Kikul, Frauke
;
Zdrazilova, Lucie
;
Honzik, Tomáš
;
Hecker, Andreas
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
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7 . Academic Journal
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
저자
by
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
;
Alghamdi, Malak Ali
;
Anikster, Yair
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
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7 . Academic Journal
Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control
저자
by
Burska, Daniela
;
Stiburek, Lukas
;
Krizova, Jana
;
Vanisova, Marie
;
Martinek, Vaclav
, et al.
소스
In
BBA - Molecular Basis of Disease
1 August 2021 1867(8)
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7 . Academic Journal
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
저자
by
Aldrian, Denise
;
Waldner, Birgit
;
Vogel, Georg F.
;
El‐Gharbawy, Areeg H.
;
McKiernan, Patrick
, et al.
소스
Journal of Inherited Metabolic Disease; Mar2024, Vol. 47 Issue 2, p220-229, 10p
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7 . Academic Journal
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX
저자
by
Ondruskova, Nina
;
Honzik, Tomas
;
Kolarova, Hana
;
Pakanova, Zuzana
;
Mucha, Jan
, et al.
소스
In
Metabolism
May 2018 82:135-141
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7 . Academic Journal
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
저자
by
Wong, Sunnie Yan-Wai
;
Beamer, Lesa J.
;
Gadomski, Therese
;
Honzik, Tomas
;
Mohamed, Miski
, et al.
소스
In
The Journal of Pediatrics
August 2016 175:130-136
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7 . Academic Journal
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
저자
by
Moravikova, Jana
;
Honzik, Tomas
;
Jadvidzakova, Eva
;
Zdrahalova, Katerina
;
Kremlikova Pourova, Radka
, et al.
소스
In
Journal of AAPOS
December 2020 24(6):352-352
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7 . Academic Journal
Genetic findings in Czech patients with limb girdle muscular dystrophy.
저자
by
Zídková, Jana
;
Kramářová, Tereza
;
Kopčilová, Johana
;
Réblová, Kamila
;
Haberlová, Jana
, et al.
소스
Clinical Genetics
. Nov2023, Vol. 104 Issue 5, p542-553. 12p.
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7 . Academic Journal
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
저자
by
Park, Eon Joo
;
Grabińska, Kariona A.
;
Guan, Ziqiang
;
Stránecký, Viktor
;
Hartmannová, Hana
, et al.
소스
In
Cell Metabolism
2 September 2014 20(3):448-457
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7 . Academic Journal
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
저자
by
Rákosníková, Tereza
;
Kelifová, Silvie
;
Štufková, Hana
;
Lokvencová, Kateřina
;
Lišková, Petra
, et al.
소스
Frontiers in Genetics; 2023, p1-9, 9p
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