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1 . Academic Journal
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns
저자
by
Patryk Lipiński
;
Katarzyna Wójcicka-Kowalczyk
;
Anna Bogdańska
;
Ewa Ehmke
;
Magdalena Pajdowska
, et al.
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Frontiers in Genetics, Vol 15 (2024)
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7 . Academic Journal
Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights
저자
by
Patryk Lipiński
;
Elżbieta Ciara
;
Dorota Jurkiewicz
;
Maciej Pronicki
;
Elżbieta Jurkiewicz
, et al.
소스
Frontiers in Pediatrics, Vol 10 (2022)
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7 . Academic Journal
Congenital disorders of glycosylation in children – Histopathological and ultrastructural changes in the liver
저자
by
Patryk Lipiński
;
Joanna Cielecka-Kuszyk
;
Elżbieta Czarnowska
;
Anna Bogdańska
;
Piotr Socha
, et al.
소스
Pediatrics and Neonatology, Vol 62, Iss 3, Pp 278-283 (2021)
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7 . Academic Journal
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
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by
Anna Bogdańska
;
Patryk Lipiński
;
Paulina Szymańska-Rożek
;
Aleksandra Jezela-Stanek
;
Dariusz Rokicki
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm
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by
Patryk Lipiński
;
Anna Bogdańska
;
Agnieszka Różdżyńska‐Świątkowska
;
Aldona Wierzbicka‐Rucińska
;
Anna Tylki‐Szymańska
.
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JIMD Reports, Vol 51, Iss 1, Pp 82-88 (2020)
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7 . Academic Journal
Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation
저자
by
Patryk Lipiński
;
Anna Bogdańska
;
Piotr Socha
;
Anna Tylki-Szymańska
.
소스
Frontiers in Pediatrics, Vol 9 (2021)
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6 . Academic Journal
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population
저자
by
Patryk Lipiński
;
Anna Bogdańska
;
Anna Tylki-Szymańska
.
소스
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100726- (2021)
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5 . Academic Journal
ATP6AP1‐CDG: Follow‐up and female phenotype
저자
by
Patryk Lipiński
;
Dariusz Rokicki
;
Anna Bogdańska
;
Justyna Lesiak
;
Dirk J. Lefeber
, et al.
소스
JIMD Reports, Vol 53, Iss 1, Pp 80-82 (2020)
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7 . Academic Journal
Pediatric Liver Disease Patients and Secondary Glycosylation Abnormalities
저자
by
Anna Bogdańska
;
Patryk Lipiński
;
Paulina Szymańska-Rożek
;
Irena Jankowska
;
Piotr Socha
, et al.
소스
Frontiers in Pediatrics, Vol 8 (2021)
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7 . Academic Journal
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG
저자
by
Karolina Mitusińska
;
Artur Góra
;
Anna Bogdańska
;
Agnieszka Rożdżyńska-Świątkowska
;
Anna Tylki-Szymańska
, et al.
소스
Biomolecules, Vol 12, Iss 3, p 398 (2022)
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