Tomáš Honzík

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Congenital disorders of glycosylation: Still “hot” in 2020

International consensus guidelines for phosphoglucomutase 1 deficiency (<scp>PGM1‐CDG</scp>): Diagnosis, follow‐up, and management

Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Oral D-galactose supplementation in PGM1-CDG

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease

Initial Human Experience with SBC-102, a Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency