Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review-Reference-Cited by-同舟云学术

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Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review

Published:2018-12-03 Issue:6 Volume:74 Page:460-464
ISSN:1784-3286
Container-title:Acta Clinica Belgica
language:en
Short-container-title:Acta Clinica Belgica

Author:

David Sara¹,De Waele Kathleen²,De Wilde Bram³⁴,Faes Franny⁵,Vanakker Olivier⁶,Walraedt Sophie⁷,Prytuła Agnieszka¹

Affiliation:

1. Department of Pediatrics, Division of Pediatric Nephrology and Rheumatology, Ghent University Hospital, Ghent, Belgium

2. Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, Ghent University Hospital, Ghent, Belgium

3. Department of Pediatrics, Division of Pediatric Hemato-oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium

4. Cancer Research Institute Ghent (CRIG), Ghent, Belgium

5. Department of Pediatrics, Division of Pediatric Neurology and Metabolic Disease, Ghent University Hospital, Ghent, Belgium

6. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

7. Department of Ophtalmology, Ghent University Hospital, Ghent, Belgium

Publisher

Informa UK Limited

Subject

General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/17843286.2018.1551743

Reference10 articles.

1. Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

2. Lowe syndrome

3. The oculocerebrorenal syndrome of Lowe: an update

4. Impaired neural development in a zebrafish model for Lowe syndrome

5. MRI Findings and Peripheral Neuropathy in Lowe's Syndrome

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Renal Tubular Disorders;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2023

2. Oculocerebrorenal syndrome of Lowe protein controls cytoskeletal reorganisation during human platelet spreading;British Journal of Haematology;2022-09-29

3. Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management;European Journal of Ophthalmology;2020-04-27

4. Epilepsy and cranial hemangioma in Lowe syndrome;Acta Neurologica Belgica;2019-06-12

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