D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia-Reference-Cited by-同舟云学术

D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia

Published:2021-10-08 Issue:1 Volume:188 Page:357-363
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Werner Kelly M.¹^ORCID,Cox Allison J.²³,Qian Emily²,Jain Preti²⁴,Ji Weizhen¹,Tikhonova Irina²,Castaldi Christopher²,Bilguvar Kaya²,Knight James²,Ferdinandusse Sacha⁵,Fawaz Rima¹,Jiang Yong‐Hui²,Gallagher Patrick G.¹²⁶,Bizzarro Matthew¹,Gruen Jeffrey R.¹²,Bale Allen²,Zhang Hui²

Affiliation:

1. Department of Pediatrics Yale University School of Medicine New Haven Connecticut USA

2. Department of Genetics Yale University School of Medicine New Haven Connecticut USA

3. PreventionGenetics LLC Marshfield Wisconsin USA

4. Sema4 Stanford CT USA

5. Department of Clinical Chemistry Amsterdam UMC Locatie AMC Amsterdam Netherlands

6. Department of Pathology Yale University School of Medicine New Haven Connecticut USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62520

Reference24 articles.

1. Splicing mutations in human genetic disorders: examples, detection, and confirmation

2. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

3. Staged Placement of Growing Rods for Metabolic Bone Disease and Insufficient Bone Quality

4. Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency

5. Bile acids: the role of peroxisomes

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2. D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature;International Journal of Molecular Sciences;2024-04-30

3. Therapierefraktäre zerebrale Anfälle bei einem Neugeborenen aufgrund einer D-bifunktionellen Protein-Defizienz (Pseudo-Zellweger-Syndrom) – Fallbericht;Zeitschrift für Geburtshilfe und Neonatologie;2023-06

4. The Overlooked Transformation Mechanisms of VLCFAs: Peroxisomal β-Oxidation;Agriculture;2022-06-30