Myoclonus‐Ataxia Syndrome Associated with Hyperprolinemia Type I-Reference-Cited by-同舟云学术

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Myoclonus‐Ataxia Syndrome Associated with Hyperprolinemia Type I

Published:2023-08 Issue:S3 Volume:10 Page:
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Ong Tien Lee¹^ORCID,Lau Yue Hui²^ORCID,Ngu Lock Hock³^ORCID,Hadi Dianah⁴,Lau Keng Ming⁵^ORCID,Mawardi Ahmad Shahir⁶^ORCID

Affiliation:

1. Neurology Unit, Medical Department Hospital Sungai Buloh, Ministry of Health Sungai Buloh Malaysia

2. Neurology Unit, Medical Department Hospital Tengku Ampuan Rahimah Klang, Ministry of Health Sungai Buloh Malaysia

3. Department of Genetics Hospital Kuala Lumpur, Ministry of Health Kuala Lumpur Malaysia

4. Paediatric Neurology Department Hospital Tunku Azizah Kuala Lumpur, Ministry of Health Kuala Lumpur Malaysia

5. Department of Internal Medicine Royal Victoria Hospital, Belfast Health & Social Care Trust Northern Ireland UK

6. Neurology Department Hospital Kuala Lumpur, Ministry of Health Kuala Lumpur Malaysia

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference6 articles.

1. Familial Hyperprolinemia, Cerebral Dysfunction and Renal Anomalies Occurring in a Family with Hereditary Nephropathy and Deafness

2. Biochemical and clinical features of hereditary hyperprolinemia

3. Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia

4. Functional Consequences of PRODH Missense Mutations

5. Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH;Hama R;Hum Genome Var,2021

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