Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures-Reference-Cited by-同舟云学术

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Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures

Published:2013 Issue: Volume: Page:17-24
ISSN:2192-8304
Container-title:JIMD Reports
language:
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Author:

Belachew Dina,Kazmerski Traci,Libman Ingrid,Goldstein Amy C.,Stevens Susan T.,DeWard Stephanie,Vockley Jerry,Sperling Mark A.,Balest Arcangela L.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2013_217

Reference52 articles.

1. Balasubramaniam S, Bowling F, Carpenter K et al (2010) Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis. 2010 January 5

2. Barcia JP, Strife CF, Langman CB (1997) Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr 130(5):825–828

3. Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr (2009) Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediatr 168(6):697–704

4. Baumgartner-Sigl S, Haberlandt E, Mumm S et al (2007) Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone 40(6):1655–1661

5. Baxter P (1999) Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 81:431–433

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1. Modern Approaches to the Management of Children with Hypophosphatasia;Pediatric pharmacology;2023-08-22

2. A case of infantile hypophosphatasia: Phenotypic findings of a compound heterozygous inheritance with a novel mutation;Wadia Journal of Women and Child Health;2023-05-14

3. Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review;Children;2023-03-15

4. The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces;Diagnostics;2022-03-30

5. Status epilepticus due to asfotase alfa interruption in perinatal severe hypophosphatasia;Pediatric Neurology;2021-12

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