Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome-Reference-Cited by-同舟云学术

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Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

Published:2000-12 Issue:8 Volume:23 Page:847-848
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Goodman B. K.¹,Rutberg J.²,Lin W. W.³,Pulver A. E.⁴,Thomas G. H.²,Geraghty M. T.²

Affiliation:

1. ; Department of Gynecology and Obstetrics; Johns Hopkins University School of Medicine; Baltimore Maryland USA

2. ; Department of Pediatrics; Johns Hopkins University School of Medicine; Baltimore Maryland USA

3. ; Department of Psychiatry; National Defense Medical Center; Taipei Taiwan

4. ; Department of Psychiatry; Johns Hopkins University School of Medicine; Baltimore Maryland USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1026773005303/fullpdf

Reference4 articles.

1. A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-1 hyperprolinaemia;Campbell;Hum Genet,1997

2. Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene;Jaeken;J Inherit Metab Dis,1996

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1. Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation;Translational Psychiatry;2023-12-14

2. Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation;2023-01-14

3. A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome;Molecular Psychiatry;2022-10-03

4. The Relationships between Dopaminergic, Glutamatergic, and Cognitive Functioning in 22q11.2 Deletion Syndrome: A Cross-Sectional, Multimodal 1H-MRS and 18F-Fallypride PET Study;Genes;2022-09-19

5. New quantification method for monitoring 18 l ‐amino acids levels in schizophrenic patients by high‐performance liquid chromatography coupled to tandem quadrupole mass spectrometer;Biomedical Chromatography;2022-08-09

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