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Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Abstract The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Here, we describe these new developments and provide guidelines for the clinical and laboratory diagnosis of peroxisomal patients.
PMID
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Authors

Mayor MeshTerms
Keywords

Adrenoleukodystrophy

Etherphospholipids

Fatty acid metabolism

Metabolomics

Peroxisomal diseases

Peroxisomes

Refsum disease

Zellweger syndrome

Journal Title methods in molecular biology (clifton, n.j.)
Publication Year Start




PMID- 28409475
OWN - NLM
STAT- MEDLINE
DA  - 20170414
DCOM- 20170518
LR  - 20170518
IS  - 1940-6029 (Electronic)
IS  - 1064-3745 (Linking)
VI  - 1595
DP  - 2017
TI  - Clinical and Laboratory Diagnosis of Peroxisomal Disorders.
PG  - 329-342
LID - 10.1007/978-1-4939-6937-1_30 [doi]
AB  - The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in 
      man caused by an impairment in peroxisome biogenesis or one of the metabolic
      functions of peroxisomes. Thanks to the revolutionary technical developments in
      gene sequencing methods and their increased use in patient diagnosis, the field
      of genetic diseases in general and peroxisomal disorders in particular has
      dramatically changed in the last few years. Indeed, several novel peroxisomal
      disorders have been identified recently and in addition it has been realized that
      the phenotypic spectrum of patients affected by a PD keeps widening, which makes 
      clinical recognition of peroxisomal patients increasingly difficult. Here, we
      describe these new developments and provide guidelines for the clinical and
      laboratory diagnosis of peroxisomal patients.
FAU - Wanders, Ronald J A
AU  - Wanders RJ
AD  - Laboratory Genetic Metabolic Diseases, Departments of Paediatrics and Clinical
      Chemistry, Emma Children's Hospital, Academic Medical Center, University of
      Amsterdam, Amsterdam, AZ, 1105, The Netherlands. [email protected]
FAU - Klouwer, Femke C C
AU  - Klouwer FC
AD  - Laboratory Genetic Metabolic Diseases, Departments of Paediatrics and Clinical
      Chemistry, Emma Children's Hospital, Academic Medical Center, University of
      Amsterdam, Amsterdam, AZ, 1105, The Netherlands.
FAU - Ferdinandusse, Sacha
AU  - Ferdinandusse S
AD  - Laboratory Genetic Metabolic Diseases, Departments of Paediatrics and Clinical
      Chemistry, Emma Children's Hospital, Academic Medical Center, University of
      Amsterdam, Amsterdam, AZ, 1105, The Netherlands.
FAU - Waterham, Hans R
AU  - Waterham HR
AD  - Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry,
      Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The
      Netherlands.
FAU - Poll-The, Bwee Tien
AU  - Poll-The BT
AD  - Department Paediatric Neurology, Emma Children's Hospital, Academic Medical
      Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Methods Mol Biol
JT  - Methods in molecular biology (Clifton, N.J.)
JID - 9214969
RN  - EC 1.3.3.6 (Acyl-CoA Oxidase)
RN  - EC 4.2.1.107 (Peroxisomal Multifunctional Protein-2)
RN  - EC 4.2.1.119 (HSD17B4 protein, human)
SB  - IM
MH  - Acyl-CoA Oxidase/deficiency/genetics
MH  - Genetic Testing
MH  - Humans
MH  - Peroxisomal Disorders/*diagnosis/*genetics/metabolism
MH  - Peroxisomal Multifunctional Protein-2/deficiency/genetics/metabolism
MH  - Peroxisomes/genetics/metabolism
MH  - Phenotype
OTO - NOTNLM
OT  - *Adrenoleukodystrophy
OT  - *Etherphospholipids
OT  - *Fatty acid metabolism
OT  - *Metabolomics
OT  - *Peroxisomal diseases
OT  - *Peroxisomes
OT  - *Refsum disease
OT  - *Zellweger syndrome
EDAT- 2017/04/15 06:00
MHDA- 2017/05/19 06:00
CRDT- 2017/04/15 06:00
AID - 10.1007/978-1-4939-6937-1_30 [doi]
PST - ppublish
SO  - Methods Mol Biol. 2017;1595:329-342. doi: 10.1007/978-1-4939-6937-1_30.

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