Patryk Lipinski

Children's Memorial Health Institute

Poland

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Articles (10)

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Collaborators (11)

Ewa Lange

university profesor

Warsaw University of Life Sciences

POLAND

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Agnieszka Ługowska

POLAND

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Aleksandra Jezela-Stanek

National Tuberculosis and Lung Diseases Research Institute

POLAND

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Andrzej Eljaszewicz

Medical University of Bialystok

POLAND

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Elżbieta Ciara

PhD; Head of the Molecular Genetics Lab

Children's Memorial Health Institute

POLAND

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Elzbieta Jurkiewicz

Children's Memorial Health Institute

POLAND

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Pawel Dubiela

Medical University of Bialystok

POLAND

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Marlena Tynecka

Medical University of Białystok

POLAND

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Ewa Ehmke vel Emczynska-Seliga

Children's Memorial Health Institute

POLAND

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Dariusz Rokicki

Children's Memorial Health Institute

POLAND

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Ploski R

POLAND

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Patryk Lipinski

Research Interests

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Articles (10)

Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review

DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy

A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

Efficacy of Enzyme Replacement Therapy on the range of motion of the upper and lower extremities in 16 Polish patients with mucopolysaccharidosis type II: A long-term follow-up study

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

Anthropometric Phenotype of Patients with PMM2-CDG

Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult

Collaborators (11)

Ewa Lange

Agnieszka Ługowska

Aleksandra Jezela-Stanek

Andrzej Eljaszewicz

Elżbieta Ciara

Elzbieta Jurkiewicz

Pawel Dubiela

Marlena Tynecka

Ewa Ehmke vel Emczynska-Seliga

Dariusz Rokicki

Ploski R

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