Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits.

Suppr

超能文献

作者信息

Mabry C C, Bautista A, Kirk R F, Dubilier L D, Braunstein H, Koepke J A

出版信息

J Pediatr. 1970 Jul;77(1):74-85. doi: 10.1016/s0022-3476(70)80047-6.

DOI:10.1016/s0022-3476(70)80047-6

PMID:5465362

Abstract

摘要

相似文献

Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits.

J Pediatr. 1970 Jul;77(1):74-85. doi: 10.1016/s0022-3476(70)80047-6.

A new HGPRT-deficient phenotype?

J Med Genet. 1972 Dec;9(4):482-4. doi: 10.1136/jmg.9.4.482.

Infantile free sialuria without lysosomal storage.

Pediatr Neurol. 1987 Jan-Feb;3(1):40-3. doi: 10.1016/0887-8994(87)90054-3.

A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.

J Med Genet. 1990 Feb;27(2):127-9. doi: 10.1136/jmg.27.2.127.

Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia.

Clin Genet. 1974 Jan;5(1):36-9. doi: 10.1111/j.1399-0004.1974.tb01656.x.

Intestinal alkaline phosphatase activity in familial hypophosphatasia.

N Engl J Med. 1968 Jun 6;278(23):1253-60. doi: 10.1056/NEJM196806062782303.

Case and kindred in mental deficiency.

Br J Psychiatry. 1974 Dec;125:547-52. doi: 10.1192/bjp.125.6.547.

A new familial form of convulsive disorder and mental retardation limited to females.

J Pediatr. 1971 Nov;79(5):726-32. doi: 10.1016/s0022-3476(71)80382-7.

A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.

J Pediatr. 1973 Mar;82(3):466-71. doi: 10.1016/s0022-3476(73)80122-2.

Half-normal adenylate kinase activity in three generations.

Ann Hum Genet. 1971 Jul;35(1):109-14. doi: 10.1111/j.1469-1809.1956.tb01383.x.

引用本文的文献

A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations.

Mol Syndromol. 2025 Jul 9. doi: 10.1159/000547293.

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Mol Syndromol. 2025 Oct;16(5):476-488. doi: 10.1159/000542617. Epub 2024 Nov 26.

A Novel Homozygous Missense Variant of Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.

Int J Mol Sci. 2025 Mar 20;26(6):2790. doi: 10.3390/ijms26062790.

Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.

Biomedicines. 2024 Dec 6;12(12):2779. doi: 10.3390/biomedicines12122779.

A case report of -related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review.

Front Pediatr. 2024 Dec 2;12:1419976. doi: 10.3389/fped.2024.1419976. eCollection 2024.

Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases.

Genes (Basel). 2024 May 31;15(6):715. doi: 10.3390/genes15060715.

Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.

Cureus. 2024 May 21;16(5):e60737. doi: 10.7759/cureus.60737. eCollection 2024 May.

Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.

Genes (Basel). 2024 May 14;15(5):619. doi: 10.3390/genes15050619.

Bilateral Glaucoma as Possible Additional Feature for -Associated Hyperphosphatasia.

Case Rep Genet. 2024 Mar 23;2024:3561555. doi: 10.1155/2024/3561555. eCollection 2024.

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

JIMD Rep. 2023 Sep 20;64(6):424-433. doi: 10.1002/jmd2.12396. eCollection 2023 Nov.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验