List of works - Julien H Park

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

scientific article published on 9 May 2015

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions

scientific article published on 7 May 2015

It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test

scientific article

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

scientific article published on 31 July 2017

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

scientific article

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

scientific article published on 27 August 2020

Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1

scientific article published on 01 February 2020

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

scientific article

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

scientific article published on 01 August 2019

TMEM165 Deficiency: Postnatal Changes in Glycosylation

scientific article published on 4 August 2015

TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents

scientific article published on 02 June 2020

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation

scientific article published on 26 May 2014

The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation

scientific article published on 04 August 2020

Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples

scientific article published on 07 January 2019

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation

scientific article published on 08 October 2014

Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants

scientific article published on 07 January 2020

List of works by Julien H Park

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions

It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

TMEM165 Deficiency: Postnatal Changes in Glycosylation

TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation

The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation

Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation

Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants