Beatriz García-Fontana

Tissue-nonspecific alkaline phosphatase deficiency is associated with altered immune cell profiles in hypophosphatasia

Luis Martínez-Heredia, Manuel Muñoz-Torres, Trinidad González-Cejudo, María Dolores López-Robles et autres

Background Hypophosphatasia (HPP) is a rare metabolic disorder caused by mutations in the ALPL gene leading to tissue-nonspecific alkaline phosphatase (TNSALP) deficiency. Although traditionally considered a skeletal disease, emerging evidence suggests an immunomodulatory role for TNSALP in systemic inflammation and immune-mediated inflammatory …

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Serum Periostin as a Complementary Biomarker of Frailty in Type 2 Diabetes: A Pilot Study Using the FRAIL Scale

Sheila González-Salvatierra, Beatriz García-Fontana, Cristina García‐Fontana, Luis Martínez-Heredia et autres

Frailty is a multidimensional syndrome of reduced physiological reserve that is particularly prevalent in individuals with type 2 diabetes. Identifying objective biochemical markers to complement clinical screening tools, such as the FRAIL scale, is an increasingly important unmet need. Periostin, a matricellular …

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Osteoglycin and Sclerostin Imbalance in Hypophosphatasia: Bone-Derived Markers of Mineralization and Systemic Involvement

Luis Martínez-Heredia, Clara Toro-Comino, María José Muñoz-Domene, Trinidad González-Cejudo et autres

Hypophosphatasia (HPP) is a rare inherited disorder caused by deficient tissue-nonspecific alkaline phosphatase (TNSALP) activity and classically characterized by impaired mineralization processes, although growing evidence suggests broader systemic involvement beyond bone. This cross-sectional study aimed to characterize circulating levels of osteoglycin and …

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Resumen ejecutivo del documento consenso OSEOSEEN sobre diagnóstico y manejo de las enfermedades óseas raras

Beatriz García-Fontana, Cristina García-Fontana, M. Robles, Verónica Ávila-Rubio et autres

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Age-related Reference Data for Cortical and Trabecular 3D-DXA Parameters: the SEIOMM-3D-DXA Project

E. Casado, Silvana Di Gregorio, C Valero, Jesus Gonzalez-Macias et autres

Abstract Purpose Osteoporosis and associated hip fractures are a major public health concern. Dualenergy X-ray Absorptiometry (DXA) remains the diagnostic gold standard, but its areal (a) bone mineral density (BMD) measurements have limited sensitivity, as many fractures occur at T-scores above −2.5. …

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Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

Luis Martínez-Heredia, Trinidad González-Cejudo, María Carmen Andreo-López, Victoria Contreras-Bolívar et autres

BACKGROUND: Tissue-nonspecific alkaline phosphatase (TNSALP) and intestinal alkaline phosphatase (IAP) are functionally similar enzymes, but their relationship in hypophosphatasia (HPP) remains unexplored. This study investigated the impact of HPP-a condition caused by ALPL gene mutations that impair TNSALP function-on serum and fecal …

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Additional file 1 of Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

Luis Martínez-Heredia, Trinidad González-Cejudo, María Carmen Andreo-López, Victoria Contreras-Bolívar et autres

Supplementary Material 1

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Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

Luis Martínez-Heredia, Trinidad González-Cejudo, María Carmen Andreo-López, Victoria Contreras-Bolívar et autres

Abstract Background Tissue-nonspecific alkaline phosphatase (TNSALP) and intestinal alkaline phosphatase (IAP) are functionally similar enzymes, but their relationship in hypophosphatasia (HPP) remains unexplored. This study investigated the impact of HPP—a condition caused by ALPL gene mutations that impair TNSALP function—on serum and …

es (code pays fourni par la source)

Additional file 2 of Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

Luis Martínez-Heredia, Trinidad González-Cejudo, María Carmen Andreo-López, Victoria Contreras-Bolívar et autres

Supplementary Material 2

es (code pays fourni par la source)

Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

Luis Martínez-Heredia, Trinidad González-Cejudo, María Carmen Andreo-López, Victoria Contreras-Bolívar et autres

Abstract Background Tissue-nonspecific alkaline phosphatase (TNSALP) and intestinal alkaline phosphatase (IAP) are functionally similar enzymes, but their relationship in hypophosphatasia (HPP) remains unexplored. This study investigated the impact of HPP—a condition caused by ALPL gene mutations that impair TNSALP function—on serum and …

es (code pays fourni par la source)

Additional file 2 of Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

Luis Martínez-Heredia, Trinidad González-Cejudo, María Carmen Andreo-López, Victoria Contreras-Bolívar et autres

Supplementary Material 2

es (code pays fourni par la source)

Additional file 1 of Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

Luis Martínez-Heredia, Trinidad González-Cejudo, María Carmen Andreo-López, Victoria Contreras-Bolívar et autres

Supplementary Material 1

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