Search Results - "Laso E"

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G.P.238: Phenotypic spectrum of three patients affected by TRPV4 mutations.

Authors: Ortez, C. Fernandez, J. Laso, E. López et al.

Source: Neuromuscular Disorders. Oct2014, Vol. 24 Issue 9/10, p888-888. 1p.

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Authors: Fernandez-Moreira D Ugalde C Smeets R et al.

Source: Annals of Neurology. Jan2007, Vol. 61 Issue 1, p73-83. 11p.

Prevalence and Control of Pseudomonas aeruginosa in Tourist Facilities across the Canary Islands, Spain.

Authors: Doménech-Sánchez A Laso E Albertí S

Source: Pathogens (Basel, Switzerland) [Pathogens] 2024 Jun 12; Vol. 13 (6). Date of Electronic Publication: 2024 Jun 12.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101596317 Publication Model: Electronic Cited Medium: Print ISSN: 2076-0817 (Print) Linking ISSN: 20760817 NLM ISO Abbreviation: Pathogens Subsets: MEDLINE

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Authors: Yıldız Y Kuseyri Hübschmann O Akgöz Karaosmanoğlu A et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 431-446. Date of Electronic Publication: 2023 Jul 24.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Could Intravenous Immunoglobulin Be an Alternative Therapy for Treating Infant Botulism in Areas Where Human Botulism Immunoglobulin Is Not Easily Available?: Our Experience in Andalusia, Spain.

Authors: Palomino-Fernandez L Villarejo-Perez A Fernandez-Fuentes C et al.

Corporate Authors: Palomino-Fernandez L Villarejo-Perez A Fernandez-Fuentes C et al.

Source: The Pediatric infectious disease journal [Pediatr Infect Dis J] 2025 Jun 01; Vol. 44 (6), pp. e193-e198. Date of Electronic Publication: 2025 Jan 17.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Williams & Wilkins Country of Publication: United States NLM ID: 8701858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-0987 (Electronic) Linking ISSN: 08913668 NLM ISO Abbreviation: Pediatr Infect Dis J Subsets: MEDLINE

Mineralizing angiopathy: A cause of arterial ischemic stroke in early childhood after mild head trauma.

Authors: Prieto-Berchez G González-Campillo MT Vicente-Rueda J et al.

Source: Neurologia [Neurologia (Engl Ed)] 2025 Jun; Vol. 40 (5), pp. 468-472. Date of Electronic Publication: 2025 May 20.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier España Country of Publication: Spain NLM ID: 101778590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2173-5808 (Electronic) Linking ISSN: 21735808 NLM ISO Abbreviation: Neurologia (Engl Ed) Subsets: MEDLINE

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

Authors: Rodríguez-García ME Cotrina-Vinagre FJ Bellusci M et al.

Source: Human mutation [Hum Mutat] 2022 Oct; Vol. 43 (10), pp. 1361-1367. Date of Electronic Publication: 2022 Jul 01.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Authors: Cordovado A Schaettin M Jeanne M et al.

Source: Human molecular genetics [Hum Mol Genet] 2022 Sep 29; Vol. 31 (19), pp. 3325-3340.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.

Authors: Pata S Flores-Rojas K Gil A et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 05; Vol. 17 (1), pp. 340. Date of Electronic Publication: 2022 Sep 05.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

Authors: Sánchez-Lijarcio O Yubero D Leal F et al.

Source: Clinical genetics [Clin Genet] 2022 Jul; Vol. 102 (1), pp. 40-55. Date of Electronic Publication: 2022 Apr 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Environmental surveillance of Legionella in tourist facilities of the Balearic Islands, Spain, 2006 to 2010 and 2015 to 2018.

Authors: Doménech-Sánchez A Laso E Berrocal CI et al.

Source: Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin [Euro Surveill] 2022 May; Vol. 27 (21).

Publication Type: Journal Article

Journal Info: Publisher: European Centre for Disease Prevention and Control (ECDC) Country of Publication: Sweden NLM ID: 100887452 Publication Model: Print Cited Medium: Internet ISSN: 1560-7917 (Electronic) Linking ISSN: 1025496X NLM ISO Abbreviation: Euro Surveill Subsets: MEDLINE

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Authors: Keller M Brennenstuhl H Kuseyri Hübschmann O et al.

Corporate Authors: Keller M Brennenstuhl H Kuseyri Hübschmann O et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1489-1502. Date of Electronic Publication: 2021 Aug 02.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Authors: Kuseyri Hübschmann O Horvath G Cortès-Saladelafont E et al.

Corporate Authors: Kuseyri Hübschmann O Horvath G Cortès-Saladelafont E et al.

Source: Nature communications [Nat Commun] 2021 Sep 20; Vol. 12 (1), pp. 5529. Date of Electronic Publication: 2021 Sep 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis.

Authors: Labella Álvarez F Fernández-Ramos JA Camino León R et al.

Source: Neurologia [Neurologia (Engl Ed)] 2024 Mar; Vol. 39 (2), pp. 105-116. Date of Electronic Publication: 2024 Jan 23.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier España Country of Publication: Spain NLM ID: 101778590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2173-5808 (Electronic) Linking ISSN: 21735808 NLM ISO Abbreviation: Neurologia (Engl Ed) Subsets: MEDLINE

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.

Authors: Kuseyri Hübschmann O Mohr A Friedman J et al.

Corporate Authors: Kuseyri Hübschmann O Mohr A Friedman J et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 1070-1082. Date of Electronic Publication: 2021 Jan 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

A new biarticular cement spacer technique for infected total hip and knee arthroplasty with massive bone loss.

Authors: Sanz-Ruiz P Matas-Diez JA Villanueva-Martinez M et al.

Source: Hip international : the journal of clinical and experimental research on hip pathology and therapy [Hip Int] 2021 Mar; Vol. 31 (2), pp. 242-249. Date of Electronic Publication: 2019 Nov 20.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9200413 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6067 (Electronic) Linking ISSN: 11207000 NLM ISO Abbreviation: Hip Int Subsets: MEDLINE

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Authors: Marti-Sanchez L Baide-Mairena H Marcé-Grau A et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Mar; Vol. 44 (2), pp. 401-414. Date of Electronic Publication: 2020 Aug 16.

Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.

Authors: Tristán-Noguero A Borràs E Molero-Luis M et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 690-703. Date of Electronic Publication: 2020 Nov 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE