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1 . Academic Journal
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
저자
by
Mew, Nicholas Ah
;
Seminara, Jennifer
;
Burrage, Lindsay C.
;
Berry, Gerard T.
;
Breilyn, Margo
, et al.
소스
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Genetics in Medicine
April 2024 26(4)
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7 . Academic Journal
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
저자
by
Morales-Romero, Blai
;
Muñoz-Pujol, Gerard
;
Artuch, Rafael
;
García-Cazorla, Angels
;
O'Callaghan, Mar
, et al.
소스
In
Molecular Genetics and Metabolism
July 2024 142(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
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
저자
by
Abu Bakar, Nurulamin
;
Voermans, Nicol C.
;
Marquardt, Thorsten
;
Thiel, Christian
;
Janssen, Mirian C.H.
, et al.
소스
In
Translational Research
September 2018 199:62-76
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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
Orphanet Polska – w europejskiej sieci jako szansa oceny sytuacji chorób rzadkich na przykładzie wrodzonych wad metabolizmu u dzieci
저자
by
Pronicka, Ewa
;
Sykut-Cegielska, Jolanta
.
소스
In
Pediatria Polska
November-December 2008 83(6):704-711
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4 . Academic Journal
Wiotkość mięśniowa u niemowląt – wyzwanie diagnostyczne dla pediatry
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by
Lipka, Bożena
;
Milewska-Bobula, Bogumiła
;
Dunin-Wąsowicz, Dorota
;
Sykut-Cegielska, Jolanta
;
Pronicka, Ewa
, et al.
소스
In
Pediatria Polska
January-February 2008 83(1):33-38
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7 . Academic Journal
Deficyt liazy adenylobursztynianowej – diagnostyka i charakterystyka kliniczna 7 polskich pacjentów
저자
by
Jurecka, Agnieszka
;
Tylki-Szymańska, Anna
;
Bogdańska, Anna
;
Kmieć, Tomasz
;
Mierzewska, Hanna
, et al.
소스
In
Pediatria Polska
2007 82(7):526-532
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7 . Academic Journal
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
저자
by
Bisello, Giovanni
;
Kusmierska, Katarzyna
;
Verbeek, Marcel M.
;
Sykut–Cegielska, Jolanta
;
Willemsen, Michèl A. A. P.
, et al.
소스
Cellular & Molecular Life Sciences
. Jun2022, Vol. 79 Issue 6, p1-19. 19p.
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7 . Academic Journal
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme.
저자
by
Jezela-Stanek, Aleksandra
;
Suchoń, Lidia
;
Sobczyńska-Tomaszewska, Agnieszka
;
Czerska, Kamila
;
Kuśmierska, Katarzyna
, et al.
소스
Genes
. May2022, Vol. 13 Issue 5, p802-802. 11p.
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