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List of works by Bwee Tien Poll-The

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene ⬇️

scientific article published on April 14, 2003

A Nonsense Mutation in the Exon 2 of the 3-Hydroxy- 3-methylglutaryl Coenzyme A Lyase (HL) Gene Producing Three Mature mRNAs Is the Main Cause of 3-Hydroxy-3-methylglutaric Aciduria in European Mediterranean Patients ⬇️

scientific article published on January 1, 1998

A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency ⬇️

scientific article published on 01 April 1998

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

scientific article published on 20 February 2018

Abnormal glutathione conjugation in patients with tyrosinaemia type I ⬇️

scientific article published on 01 August 1997

Alterations of hepatic peroxisomes in tyrosinaemia type I: Return to fetal type? ⬇️

scientific article published on June 1, 1998

Bezafibrate lowers very long‐chain fatty acids in X‐linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation ⬇️

scientific article published on March 24, 2012

Clinical and Electroencephalographic Effects of Folinic Acid Treatment in Rett Syndrome Patients ⬇️

scientific article published on March 22, 2011

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders ⬇️

scientific article published on March 28, 2012

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency ⬇️

scientific article published on August 1, 1998

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

scientific article published on 15 October 2010

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.

scientific article published on 14 November 2017

Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study

scientific article published on August 24, 2011

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

scientific article published on 30 July 2019

Neurologic abnormalities in HIV-1 infected children in the era of combination antiretroviral therapy

scientific article

Peroxisomal Leukoencephalopathy ⬇️

scientific article published on March 15, 2012

Recurrent nonimmune hydrops fetalis associated with carbohydrate‐deficient glycoprotein syndrome ⬇️

scientific article published on 01 August 1998

Short Report: Plasma pipecolic acid is frequently elevated in non‐peroxisomal disease ⬇️

scientific article published on December 1, 2002

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries ⬇️

scientific article published on 01 January 1998

Strokelike episodes and cutis marmorata telangiectatica congenita

scientific article published on 13 February 2014

TSEN54 mutations cause pontocerebellar hypoplasia type 5

scientific article

The effect of fasting, long‐chain triglyceride load and carnitine load on plasma long‐chain acylcarnitine levels in mitochondrial very long‐chain acyl‐CoA dehydrogenase deficiency ⬇️

scientific article published on June 1, 1998

The eye in metabolic diseases: Clues to diagnosis ⬇️

scientific article published on April 20, 2011

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

scientific article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

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