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List of works by Patryk Lipinski

ATP6AP1-CDG: Follow-up and female phenotype

scientific article published on 09 April 2020

Acute liver failure due to DGUOK deficiency-is liver transplantation justified?

scientific article published on 08 April 2020

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Complications of endoscopic retrograde cholangiopancreatography in children with chronic pancreatitis depends on center experience

scientific article published on 20 March 2017

Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency

scientific article published on 10 February 2020

Controlled attenuation parameter and liver stiffness measurements using transient elastography by FibroScan in Gaucher disease

scientific article published on 01 November 2019

Cortisol deficiency as a rare cause of neonatal cholestasis

scholarly article by Patryk Lipiński et al published 2018 in Medycyna wieku rozwojowego

Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients

scientific article published on 01 October 2018

Genotype correlates with the natural history of severe bile salt export pump deficiency

scientific article published on 20 February 2020

Liver involvement in NGLY1 congenital disorder of deglycosylation

scientific article published on 01 January 2020

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

scientific article published on 3 January 2018

Long-term follow-up in children with progressive familial intrahepatic cholestasis type 2 after partial external biliary diversion with focus on histopathological features

scientific article published on 01 January 2019

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

scientific article published on 18 October 2019

NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm

scientific article published on 30 January 2020

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

scientific article published on 21 May 2020

Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.

scientific article

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience

scientific article published on 13 May 2020

PS-195-Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium

Progressive macrophage accumulation in lysosomal acid lipase deficiency

scientific article published on 01 May 2020

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

scientific article published on 24 July 2020

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease

scientific article published on 01 January 2018

[Progressive familial intrahepatic cholestasis type 3]

scientific article published on 01 January 2018

[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process]

scientific article published on 01 January 2018

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