Lista de obras - Teresa J Stradomska - Dominio Público Uruguay

A newly discovered metabolic diseases due to defects in the pentose pathway

artículo científico publicado en 2011

Clinical and molecular characteristics of two transaldolase-deficient patients

artículo científico publicado en 2014

Clinical and neuropathological picture of familial encephalopathy with bifunctional protein deficiency

artículo científico publicado en 2007

Decreasing serum VLCFA levels in ageing X-ALD female carriers

scientific article published on 01 December 2001

Determination of urinary D-/L-arabinitol ratios as a biomarker for invasive candidiasis in children with cardiac diseases.

artículo científico publicado en 2010

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

artículo científico publicado en 2018

Effect of glycerol trioleate oil milk formula administration on very long chain fatty acid levels and clinical course in a patient with Zellweger syndrome

scientific article published on 01 October 1995

Gas chromatographic determination of D-/L-arabinitol ratio in healthy Polish children.

artículo científico publicado en 2002

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

artículo científico publicado en 2018

MRI findings in an asymptomatic boy with X-linked adrenoleukodystrophy and his symptomatic mother

artículo científico publicado en 2001

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

artículo científico publicado en 2017

Monitoring of very long-chain fatty acids levels in X-linked adrenoleukodystrophy, treated with haematopoietic stem cell transplantation and Lorenzo's Oil.

artículo científico publicado en 2014

Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

scientific article published on 02 November 2011

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

scientific article published on 18 September 2020

The Role of MR Imaging in the Assessment of Clinical Outcomes in Children with X-Linked Adrenoleukodystrophy after Allogeneic Haematopoietic Stem Cell Transplantation

artículo científico publicado en 2015

Transaldolase deficiency in two new patients with a relative mild phenotype

artículo científico publicado en 2009

Urinary D-arabinitol/L-arabinitol levels in infants undergoing long-term antibiotic therapy

artículo científico publicado en 2005

[Peroxisomal disorders]

scientific article published on 01 December 2018

[Peroxisomes--functions and disturbances in human metabolism]