Lista de obras - Julien H Park - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

scientific article published on 01 August 2019

TMEM165 Deficiency: Postnatal Changes in Glycosylation

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2014

Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants

artículo científico publicado en 2020

Lista de obras de 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