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Page 1
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Fernández-Hernández L, Reyna-Fabián ME, Alcántara-Ortigoza MA, Aláez-Verson C, Flores-Lagunes LL, Carrillo-Sánchez K, González-Del Angel A. Fernández-Hernández L, et al. Diagnostics (Basel). 2022 May 19;12(5):1268. doi: 10.3390/diagnostics12051268. Diagnostics (Basel). 2022. PMID: 35626423 Free PMC article.
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M, Alcántara-Ortigoza MA, Ibarra-González I, González-Del Angel A, Fernández-Hernández L, Guillén-López S, López-Mejía L, Carrillo-Nieto RI, Belmont-Martínez L, Fernández-Lainez C. Vela-Amieva M, et al. Among authors: fernandez hernandez l. Genes (Basel). 2021 Oct 23;12(11):1676. doi: 10.3390/genes12111676. Genes (Basel). 2021. PMID: 34828281 Free PMC article.
Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.
Alcántara-Ortigoza MA, Sánchez-Verdiguel I, Fernández-Hernández L, Enríquez-Flores S, González-Núñez A, Hernández-Martínez NL, Sánchez C, González-Del Angel A. Alcántara-Ortigoza MA, et al. Among authors: fernandez hernandez l. Children (Basel). 2021 May 30;8(6):457. doi: 10.3390/children8060457. Children (Basel). 2021. PMID: 34070861 Free PMC article.
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Ibarra-González I, Fernández-Hernández L, Guillén-López S, López-Mejía L, Fernández-Lainez C. Vela-Amieva M, et al. Among authors: fernandez hernandez l. Children (Basel). 2023 Nov 28;10(12):1865. doi: 10.3390/children10121865. Children (Basel). 2023. PMID: 38136067 Free PMC article.
Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population.
González-Del Angel A, Fernández-Hernández L, Sánchez-Verdiguel I, González-Núñez A, Martínez-Cruz V, Sánchez C, Moreno-Rojas R, Alcántara-Ortigoza MA. González-Del Angel A, et al. Among authors: fernandez hernandez l. J Pediatr Genet. 2019 Jun;8(2):41-46. doi: 10.1055/s-0038-1676644. Epub 2019 Jan 2. J Pediatr Genet. 2019. PMID: 31061744 Free PMC article.
15 results