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View article: The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type <scp>IIIA</scp> Caused by Rare Variant
The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type <span>IIIA</span> Caused by Rare Variant Open
Glycogen storage disease type III (GSD III) is an inborn error of carbohydrate metabolism with an autosomal recessive inheritance pattern. Phenotypically, patients can manifest a broad clinical spectrum. Most patients affected with GSD III…
View article: Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia
Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia Open
View article: Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management
Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management Open
Letter to the Editor Inherited metabolic diseases (IMDs) are a group of heterogenous genetic disorders resulting in substrate accumulation, energy deficiency or complex molecular defects due to the failure of specific molecules to act as e…
View article: Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations Open
View article: Prognostic Factors Associated with Acute Heart Failure in Patients Admitted for COVID-19: Analysis of the SEMI-COVID-19 Registry
Prognostic Factors Associated with Acute Heart Failure in Patients Admitted for COVID-19: Analysis of the SEMI-COVID-19 Registry Open
Introduction: Since the beginning of the COVID-19 pandemic in March 2020, an intimate relationship between this disease and cardiovascular diseases has been seen. However, few studies assess the development of heart failure during this inf…
View article: Uncovering genetic causes of hypophosphatemia
Uncovering genetic causes of hypophosphatemia Open
Background Chronic hypophosphatemia can result from a variety of acquired disorders, such as malnutrition, intestinal malabsorption, hyperparathyroidism, vitamin D deficiency, excess alcohol intake, some drugs, or organ transplantation. Ge…
View article: Mild Hypophosphatemia-Associated Conditions in Children: The Need for a Comprehensive Approach
Mild Hypophosphatemia-Associated Conditions in Children: The Need for a Comprehensive Approach Open
To better understand the causes of hypophosphatemia in children, we evaluated all serum phosphate tests performed in a tertiary hospital with unexpected but persistent temporary or isolated hypophosphatemia over an 18 year period. We colle…
View article: Expanding the Etiology of Oculo–Auriculo–Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36
Expanding the Etiology of Oculo–Auriculo–Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36 Open
The etiology of oculo–auriculo–vertebral spectrum (OAVS) is not well established. About half of patients show a positive family history. The etiology of familiar cases is unclear but appears genetically heterogeneous. This motivated us to …
View article: Alcaptonuria: respuesta a dosis bajas de nitisinone en 2 pacientes con una mutación nueva
Alcaptonuria: respuesta a dosis bajas de nitisinone en 2 pacientes con una mutación nueva Open
View article: Influence of weather factors on the incidence of COVID-19 in Spain
Influence of weather factors on the incidence of COVID-19 in Spain Open
View article: An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family
An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family Open
Thus, this novel association shows that LRP6 pathogenic variants may be involved in some cases of early-onset osteoporosis, but the predominant effect, either skeletal or cardiovascular, may vary depending on the genetic background or othe…
View article: Mutations of the LRP6 gene and bone mineral density: a family study
Mutations of the LRP6 gene and bone mineral density: a family study Open
View article: Oropharyngeal persistence of SARS-CoV-2: Influence of viral load
Oropharyngeal persistence of SARS-CoV-2: Influence of viral load Open
View article: Disorders causing secondary hypophosphatemia in adult outpatients
Disorders causing secondary hypophosphatemia in adult outpatients Open
View article: Influencia de los factores meteorológicos en la incidencia de COVID-19 en España
Influencia de los factores meteorológicos en la incidencia de COVID-19 en España Open
View article: Persistencia orofaríngea de SARS-CoV-2: influencia de la carga viral
Persistencia orofaríngea de SARS-CoV-2: influencia de la carga viral Open
View article: Effects of the COVID-19 pandemic on a cohort of patients with vein occlusion
Effects of the COVID-19 pandemic on a cohort of patients with vein occlusion Open
View article: Efectos de la pandemia por SARS-CoV-2 en una cohorte de pacientes con obstrucción venosa retiniana
Efectos de la pandemia por SARS-CoV-2 en una cohorte de pacientes con obstrucción venosa retiniana Open
View article: COVID-19 Pandemic Wikipedia Readership
COVID-19 Pandemic Wikipedia Readership Open
This data release includes two Wikipedia datasets related to the readership of the project as it relates to the early COVID-19 pandemic period. The first dataset is COVID-19 article page views by country, the second dataset is one hop navi…