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Congenital Disorders of Glycosylation: What Clinicians Need to Know?

Frontiers in pediatrics, 2021-09, Vol.9, p.715151-715151

2021

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The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment

Diagnostics (Basel), 2024-06, Vol.14 (12), p.1299

2024

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Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.17-17, Article 17

2021

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Modified by the Innovative Drugs and Strategies—Pattern of Selected Indications for Pediatric Liver Transplantation

Pediatric transplantation, 2024-08, Vol.28 (5), p.e14825-n/a

2024

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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

Acta biochimica polonica, 2022-02

2022

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

International journal of molecular sciences, 2022-09, Vol.23 (19), p.11424

2022

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Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up

Annals of hepatology, 2021-11, Vol.25, p.100342-100342, Article 100342

2021

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Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation

Acta biochimica polonica, 2021-03

2021

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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

Nutrients, 2023-04, Vol.15 (9), p.2112

2023

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Long-term outcome of patients with alpha-mannosidosis – A single center study

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100826-100826, Article 100826

2022

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

Biomolecules (Basel, Switzerland), 2023-02, Vol.13 (3), p.436

2023

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

Metabolic brain disease, 2021-10, Vol.36 (7), p.2169-2172

2021

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Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

Journal of applied genetics, 2020-02, Vol.61 (1), p.87-91

2020

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Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100726-100726, Article 100726

2021

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

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.125-131

2020

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Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns

Frontiers in genetics, 2024-09, Vol.15

2024

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

Acta biochimica Polonica, 2021-09, Vol.68 (4), p.791

2021

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Liver involvement in NGLY1 congenital disorder of deglycosylation

Polish journal of pathology, 2020-01, Vol.71 (1), p.66-68

2020

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Congenital disorders of glycosylation in children – Histopathological and ultrastructural changes in the liver

Pediatrics and neonatology, 2021-05, Vol.62 (3), p.278-283

2021

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Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

Frontiers in pediatrics, 2021-07, Vol.9, p.696918-696918

2021

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Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics (Basel), 2024-09, Vol.14 (17), p.1956

2024

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

Biomolecules (Basel, Switzerland), 2023-04, Vol.13 (4), p.644

2023

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

Clinics and research in hepatology and gastroenterology, 2021-01, Vol.45 (1), p.101408-101408, Article 101408

2021

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Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

Diagnostics (Basel), 2021-08, Vol.11 (8), p.1438

2021

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

Journal of pediatric gastroenterology and nutrition, 2018-10, Vol.67 (4), p.452-457

2018

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Congenital Disorders of Glycosylation: What Clinicians Need to Know?

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Modified by the Innovative Drugs and Strategies—Pattern of Selected Indications for Pediatric Liver Transplantation

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

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

Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up

Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation

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

Long-term outcome of patients with alpha-mannosidosis – A single center study

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

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

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

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

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns

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

Liver involvement in NGLY1 congenital disorder of deglycosylation

Congenital disorders of glycosylation in children – Histopathological and ultrastructural changes in the liver

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

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

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

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

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

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