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ACTUALIZACIÓN EN EL DIAGNÓSTICO Y TRATAMIENTO DE LAS OBESIDADES INFANTILES.

• Authors : Martos-Moreno, Gabriel Á.^1,2,3; Argente, Jesús^1,2,3,4

• Source: Anales de la Real Academia Nacional de Medicina. 2024, Vol. 141 Issue 2, p155-163. 9p.

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Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.

• Authors : Kishnani, Priya S.¹ (AUTHOR) ; Martos-Moreno, Gabriel Ángel² (AUTHOR); Linglart, Agnès³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 3/8/2024, Vol. 19 Issue 1, p1-11. 11p.

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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

• Authors : Grange, Laura J.; Martos Moreno, Gabriel Ángel; Argente Oliver, Jesús ...

Subjects: SLF2; SMC5; mutations in DNA

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The global ALPL gene variant classification project: dedicated to deciphering variants

• Authors : Farman, Mariam R.; Martos Moreno, Gabriel Ángel; UAM. Departamento de Pediatría

Subjects: ACMG; alkaline phosphatase; hypophosphatasia

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New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

• Authors : Kishnani, Priya S.; Seefried, Lothar; Dahir, Kathryn M. ...

• Source: American Journal of Medical Genetics Part A ; ISSN 1552-4825 1552-4833

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Short-chain fatty acids in plasma and feces: An optimized and validated LC-QqQ-MS method applied to study anorexia nervosa

• Authors : Mayo-Martínez, Laura; Paz Lorenzo, M.; Martos-Moreno, Gabriel Á. ...

• Source: Microchemical Journal ; volume 200, page 110255 ; ISSN 0026-265X

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Management of the child with obesity: Role and development of new medications

• Authors : Martos-Moreno, Gabriel Á.; Argente, Jesús; Instituto de Salud Carlos III

• Source: Global Pediatrics ; volume 7, page 100126 ; ISSN 2667-0097

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Identifying subgroups of childhood obesity by using multiplatform metabotyping

• Authors : Chamoso-Sanchez, David; Rabadán Pérez, Francisco; Argente, Jesús

Subjects: multiplatform metabolomics; factor analysis; data integration

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Clinical profiles of treated and untreated adults with hypophosphatasia in the global HPP registry

• Authors : Dahir, Kathryn M.; Seefried, Lothar; Kishnani, Priya S. ...

Subjects: burden of disease; enzyme replacement therapy; HRQoL

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Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

• Authors : Forsythe, Elizabeth; Haws, Robert M.; Argente Oliver, Jesús ...

Subjects: BBS; genetic obesity; IWQOL-Lite

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