Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid-Reference-Cited by-同舟云学术

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Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid

Published:2022-11-22 Issue:1 Volume:64 Page:42-52
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Messina Martina¹,Manea Emanuela¹,Cullup Thomas²,Tuschl Karin¹³,Batzios Spyros¹^ORCID

Affiliation:

1. Metabolic Medicine Department Great Ormond Street Hospital for Children London UK

2. North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children London UK

3. University College London Great Ormond Street Institute for Children London UK

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12347

Reference42 articles.

1. Tissue Non-specific Alkaline Phosphatase (TNAP) in Vessels of the Brain

2. Vitamin B6-responsive epilepsy due to inherited GPI deficiency

3. Familial hyperphosphatasia with mental retardation, seizures, and neurologic deficits

4. A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

5. Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

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1. Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives;Acta Biochimica et Biophysica Sinica;2024-07-30

2. Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases;Genes;2024-05-31

3. Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders;Genes;2024-05-14

4. AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse models;Molecular Therapy - Methods & Clinical Development;2024-03

5. PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives;Neuropediatrics;2024-02-16

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