Výsledky vyhledávání - "Mercedes Martinez Pardo"

Akademický článek

New challenges in management of phenylketonuria in pregnancy: a case report

Autor: Beatriz Ugalde-Abiega, Sinziana Stanescu, Amaya Belanger, Mercedes Martinez-Pardo, Francisco Arrieta

Publikováno v: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023)

Abstract Background Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening. Neonatal screening has allow

Externí odkaz: https://doaj.org/article/7f121f29c9fa4911ba5856795e407c10

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Akademický článek

Betaine anhydrous in homocystinuria: results from the RoCH registry

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

Abstract Background The Registry of Adult and Paediatric Patients Treated with Cystadane® – Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydr

Externí odkaz: https://doaj.org/article/05d49c6bc6994b81a7acb386a29e24b7

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Akademický článek

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Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

Autor: Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Pedro Ruiz-Sala, Mercedes del Valle, Fernando Garcia, Francisco Arrieta, Mercedes Martinez-Pardo

Publikováno v: Amino acids. 54(5)

Background Propionic acidemia is an inborn error of metabolism caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase that converts the propionyl CoA to methyl malonyl CoA. This leads to profound changes in distinct metabolic pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc654370d9bc58af2a6feb4b157289c
https://pubmed.ncbi.nlm.nih.gov/35098378

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Betaine anhydrous in homocystinuria: results from the RoCH registry

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14 (1), pp.66. ⟨10.1186/s13023-019-1036-2⟩
Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.66. ⟨10.1186/s13023-019-1036-2⟩
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Background The Registry of Adult and Paediatric Patients Treated with Cystadane® – Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cyst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2559e6302252923d39e37b2f7e04fe41
http://link.springer.com/article/10.1186/s13023-019-1036-2

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Akademický článek

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Autor: Trefz, Friedrich K. ^{a, ⁎}, Burton, Barbara K. ^b, Longo, Nicola ^c, Casanova, Mercedes Martinez-Pardo ^d, Gruskin, Daniel J. ^e, Dorenbaum, Alex ^f, Kakkis, Emil D. ^f, Crombez, Eric A. ^g, Grange, Dorothy K. ^h, Harmatz, Paul ⁱ, Lipson, Mark H. ^j, Milanowski, Andrzej ^k, Randolph, Linda Marie ^l, Vockley, Jerry ^m, Whitley, Chester B. ⁿ, Wolff, Jon A. ^o, Bebchuk, Judith ^p, Christ-Schmidt, Heidi ^p, Hennermann, Julia B. ^q

Publikováno v: In The Journal of Pediatrics 2009 154(5):700-707

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GLUT1 and COVID-19 deficiency syndrome

Autor: Francisco Arrieta Blanco, Amaya Bélanger Quintana, Nuria Bengoa Rojano, Sinziana Stanescu, Mercedes Martinez Pardo

Publikováno v: Endocrinologia, diabetes y nutricion. 68(7)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff750e18e6e2c5cea884c4b53a38bcda
https://pubmed.ncbi.nlm.nih.gov/34863417

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Additional file 2: of Betaine anhydrous in homocystinuria: results from the RoCH registry

Figure S2. Distribution of presenting symptoms of homocystinuria during the study. Cbl, cobalamin; CBS, cystathionine β-synthase; MRI, magnetic resonance imaging; MTHFR, 5, 10-methylenetetrahydrofolate reductase. (DOCX 15 kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fa4b5e30df0c29546bf0a6dfca37b81

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Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 11. BioMed Central

WOS: 000373180700001
PubMed ID: 27030250
Background: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee11699aa0554aba813c8b0edc0b88bb
https://doi.org/10.1186/s13023-016-0406-2

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