A new case of dihydropyrimidine dehydrogenase deficiency

Journal of Inherited Metabolic Disease
M BrockstedtR Berger

Abstract

We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia.

References

Jun 15, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·A H van GennipP A Voûte
Jan 1, 1985·Journal of Inherited Metabolic Disease·S K WadmanJ K van der Woude
Jan 1, 1985·Journal of Inherited Metabolic Disease·B WilckenC James
Jun 1, 1968·Biochemical Genetics·H W GoeddeK G Blume
Jul 31, 1984·Clinica Chimica Acta; International Journal of Clinical Chemistry·J A BakkerenW O Renier
Aug 31, 1984·Clinica Chimica Acta; International Journal of Clinical Chemistry·R BergerJ K van der Woude
Nov 11, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·A H van GennipS K Wadman

❮ Previous
Next ❯

Citations

Jan 1, 1993·Journal of Inherited Metabolic Disease·M J HendersonP M Davies
Jan 1, 1994·Journal of Inherited Metabolic Disease·A H van GennipH D Bakker
Feb 1, 1991·European Journal of Pediatrics·C JakobsP Rovers
Jan 1, 1994·Journal of Inherited Metabolic Disease·H D BakkerA H van Gennip
Jul 27, 2002·Adverse Drug Reactions and Toxicological Reviews·Sharon J GardinerBridget A Robinson
Jan 1, 1993·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·R A FlemingF Demard
Sep 5, 2019·Cancer Chemotherapy and Pharmacology·Vinay SharmaMalkhey Verma
Apr 27, 1999·Therapeutic Drug Monitoring·D R SohnP J Chung
Jun 1, 1997·Journal of Inherited Metabolic Disease·A H van GennipA B van Kuilenburg

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.