Melania Gonzalez-Abreu
Mexico City, DIF, Mexico
Last Updated: 09/26/2026
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Found 9 publications
Editorial: Inborn errors of carbohydrate metabolism volume II.
Journal: Frontiers in genetics
Published: February 17, 2026
Editorial: Inborn errors of carbohydrate metabolism.
Journal: Frontiers in genetics
Published: May 09, 2024
Loss-of-Function Variant in PPP1R12A -Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.
Journal: American journal of medical genetics. Part A
Published: November 20, 2023
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
Journal: Frontiers in genetics
Published: September 15, 2021
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
Journal: Frontiers in genetics
Published: July 21, 2021
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
Journal: European journal of medical genetics
Published: November 09, 2020
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Journal: Clinical genetics
Published: April 29, 2014
Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome.
Journal: Case reports in genetics
Published: July 12, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026