LIVIVO - Search results -

Search results

Result 1 - 10 of total 47

Search options

Article ; Online: Autism and Down syndrome: early identification and diagnosis.

Diniz, Natália Lisce Fioravante / Parlato-Oliveira, Erika / Pimenta, Priscila Gonçalves Ayres / Araújo, Liubiana Arantes de / Valadares, Eugênia Ribeiro

Arquivos de neuro-psiquiatria

2022 Volume 80, Issue 6, Page(s) 620–630

Abstract: Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a ... ...

Abstract	Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.
MeSH term(s)	Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/genetics ; Autistic Disorder/diagnosis ; Down Syndrome/complications ; Down Syndrome/diagnosis ; Down Syndrome/epidemiology ; Early Diagnosis ; Humans ; Quality of Life
Language	English
Publishing date	2022-08-10
Publishing country	Germany
Document type	Journal Article ; Systematic Review
ZDB-ID	418916-4
ISSN	1678-4227 ; 0004-282X
ISSN (online)	1678-4227
ISSN	0004-282X
DOI	10.1590/0004-282X-ANP-2021-0156
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui I Zs.239: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study.

Teixeira, Suélen Alves / Santos, Paula Carolina Mendes / Carneiro, Túlio Canella Bezerra / Paiva, Saul Martins / Valadares, Eugênia Ribeiro / Borges-Oliveira, Ana Cristina

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

2021 Volume 41, Issue 2, Page(s) 170–177

Abstract: Background: The relevance of sense of coherence (SOC) is important to the wellbeing of parents, especially mothers of children and adolescents with osteogenesis imperfecta (OI).: Objective: Determine whether the oral health status of children/ ... ...

Abstract	Background: The relevance of sense of coherence (SOC) is important to the wellbeing of parents, especially mothers of children and adolescents with osteogenesis imperfecta (OI). Objective: Determine whether the oral health status of children/adolescents with OI is associated with mother's SOC. Materials and method: A paired cross-sectional study was conducted with 37 children/adolescents with OI, 37 without OI, and their respective mothers. The children/adolescents were between two and 19 years of age, mean age 7.2 years, being 47 male and 27 female. The mothers completed Antonovsky's SOC questionnaire (SOC-13), and the oral status of the children/adolescents was investigated. The following clinical conditions were evaluated: dentinogenesis imperfecta, malocclusion, gingivitis, and dental caries experience. Results: The genetic condition of the children was significantly associated with mother's SOC (P < .001). Mothers of children with OI had lower SOC scores (mean: 35.6 [± 4.9]) than mothers of children without OI (mean: 38.5 [± 4.3]). In the group with OI, a low socioeconomic status was associated with lower mother's SOC scores (P = .004). In both groups, dental caries experience was associated with lower mother's SOC scores (P = .007). Most individuals with OI presented malocclusion (78.3%) and experience of dental caries (59.4%). Conclusion: Having a child with OI influenced the sense of coherence of the mothers. Socioeconomic status and dental caries experience in children and adolescents with OI were associated with mother's SOC.
MeSH term(s)	Adolescent ; Child ; Cross-Sectional Studies ; Dental Caries ; Female ; Humans ; Male ; Mothers ; Oral Health ; Osteogenesis Imperfecta ; Sense of Coherence
Language	English
Publishing date	2021-01-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	604118-8
ISSN	1754-4505 ; 0275-1879
ISSN (online)	1754-4505
ISSN	0275-1879
DOI	10.1111/scd.12560
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 2515: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Autism and Down syndrome: early identification and diagnosis

Diniz, Natália Lisce Fioravante / Parlato-Oliveira, Erika / Pimenta, Priscila Gonçalves Ayres / Araújo, Liubiana Arantes de / Valadares, Eugênia Ribeiro

Arquivos de Neuro-Psiquiatria

2022 Volume 80, Issue 06, Page(s) 620–630

Abstract	Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesi: s: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.
Keywords	Autism Spectrum Disorder ; Down Syndrome ; Diagnosis ; Transtorno do Espectro Autista ; Síndrome de Down ; Diagnóstico
Language	English
Publishing date	2022-06-01
Publisher	Thieme Revinter Publicações Ltda.
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	418916-4
ISSN	1678-4227 ; 0004-282X
ISSN (online)	1678-4227
ISSN	0004-282X
DOI	10.1590/0004-282X-ANP-2021-0156
Database	Thieme publisher's database

In stock of ZB MED Cologne/Königswinter

Ui I Zs.239: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig, Fernanda / Pinheiro, Franciele Cabral / Bettio Soares, Malu / Nalin, Tatiele / Ribeiro, Erlane Marques / Steiner, Carlos Eduardo / Ribeiro Valadares, Eugênia / Porta, Gilda / Fishinger Moura de Souza, Carolina / Schwartz, Ida Vanessa Doederlein

Molecular genetics & genomic medicine

2019 Volume 7, Issue 11, Page(s) e877

Abstract: Background: Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well-recognized diseases ...

Abstract	Background: Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well-recognized diseases that can occur without the full spectrum, and with overlapping in symptoms. Methods: We analyzed a cohort of 125 patients with suspected hepatic GSD through a next-generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools. Results: Twenty-seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (n = 53), followed by Ib (n = 23). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in G6PC gene, and p.Leu348Valfs (21 alleles) in SLC37A4 gene. Conclusions: The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.
MeSH term(s)	Biomarkers/analysis ; Brazil/epidemiology ; Cohort Studies ; Female ; Follow-Up Studies ; Glycogen Storage Disease/diagnosis ; Glycogen Storage Disease/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Liver Diseases/diagnosis ; Liver Diseases/genetics ; Male ; Mutation ; Prognosis
Chemical Substances	Biomarkers
Language	English
Publishing date	2019-09-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.877
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Hereditary fructose intolerance in Brazilian patients.

Valadares, Eugênia Ribeiro / Cruz, Ana Facury da / Adelino, Talita Emile Ribeiro / Kanufre, Viviane de Cássia / Ribeiro, Maria do Carmo / Penido, Maria Goretti Moreira Guimarães / Peret Filho, Luciano Amedee / Valadares, Laís Maria Santos Valadares E

Molecular genetics and metabolism reports

2015 Volume 4, Page(s) 35–38

Language	English
Publishing date	2015-06-15
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2015.05.007
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.

Alegra, Taciane / Sperb-Ludwig, Fernanda / Guarany, Nicole Ruas / Ribeiro, Erlane M / Lourenço, Charles M / Kim, Chong Ae / Valadares, Eugênia R / Galera, Marcial Francis / Acosta, Angelina X / Horovitz, Dafne Dain Gandelman / Schwartz, Ida Vanessa Doederlein

Journal of pediatric genetics

2019 Volume 8, Issue 4, Page(s) 198–204

Abstract: Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven ... ...

Abstract	Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3). The median age at diagnosis was 2.7 years. The predominant clinical presentations were skeletal symptoms. The ML II patients showed physical and cognitive impairment, while the ML III α/beta patients have more somatic abnormalities and usually were delayed in early development as compared with ML III gamma patients. This is the most comprehensive study exploring characteristics of Brazilian patients with MLs II and III.
Language	English
Publishing date	2019-09-24
Publishing country	Germany
Document type	Journal Article
ISSN	2146-4596
ISSN	2146-4596
DOI	10.1055/s-0039-1697605
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Oral health of children and adolescents with mucopolysaccharidosis and mother's Sense of Coherence.

Ruy Carneiro, Natália Cristina / Duda Deps, Tahyná / Campos França, Esdras / Ribeiro Valadares, Eugênia / Almeida Pordeus, Isabela / Borges-Oliveira, Ana Cristina

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

2017 Volume 37, Issue 5, Page(s) 223–229

Abstract: Aims: The purpose of this study is assess the association between mother's Sense of Coherence (SOC) and the oral health status of children with and without mucopolysaccharidosis (MPS).: Methods: A cross-sectional study was carried out with 29 ... ...

Abstract	Aims: The purpose of this study is assess the association between mother's Sense of Coherence (SOC) and the oral health status of children with and without mucopolysaccharidosis (MPS). Methods: A cross-sectional study was carried out with 29 children/adolescents with MPS and 29 children/adolescents without MPS, and their mothers in Brazil. Mothers completed the Antonovsky's SOC instrument (SOC-13) and their children's oral cavity had been examined for developmental defects of enamel (DDE), occlusal problems, dental caries (DMFT/dmft) and oral hygiene. This study was approved by the Research Ethics Committee of the Universidade Federal de Minas Gerais. Results: Mothers of children with MPS had lower SOC scores (mean: 33.3 [±4.0]) compared with mothers of children without MPS (mean: 36.9 [±4.5]) (p < 0.001). Mother's SOC of children with MPS were lower for those children with one or more decayed teeth (31.5 [±3.2]) than for those children/adolescents without caries (35.7 [±3.8]) (p = 0.004) and lower for those children/adolescents with one or more missing teeth (30.2 [±0.9]) than for those individuals identified without missing teeth (33.8 [±4.1]) (p = 0.046). Conclusion: Mothers' SOC of children/adolescents with MPS was associated with dental caries experience in their children. Improving mothers' SOC should contribute to a better quality of life for their children.
MeSH term(s)	Adolescent ; Brazil/epidemiology ; Child ; Child, Preschool ; Cross-Sectional Studies ; DMF Index ; Dental Caries/epidemiology ; Female ; Humans ; Infant ; Male ; Mothers/psychology ; Mucopolysaccharidoses/complications ; Oral Health ; Sense of Coherence ; Young Adult
Language	English
Publishing date	2017-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	604118-8
ISSN	1754-4505 ; 0275-1879
ISSN (online)	1754-4505
ISSN	0275-1879
DOI	10.1111/scd.12238
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 2515: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Diagnóstico citogenético de pacientes com retardo mental idiopático Cytogenetic diagnosis of patients with idiopathic mental retardation

Natália Duarte Linhares / Marta Svartman / Eugênia Ribeiro Valadares

Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 48, Iss 1, Pp 33-

2012 Volume 39

Abstract: O retardo mental é uma condição presente em 2% a 3% da população e mais da metade dos casos ainda são considerados idiopáticos. Sua etiologia é heterogênea e as anomalias cromossômicas têm importante contribuição. A aplicação de técnicas de citogenética ... ...

Abstract	O retardo mental é uma condição presente em 2% a 3% da população e mais da metade dos casos ainda são considerados idiopáticos. Sua etiologia é heterogênea e as anomalias cromossômicas têm importante contribuição. A aplicação de técnicas de citogenética clássica e de citogenética molecular tem permitido o diagnóstico preciso em muitos casos, proporcionando melhor acompanhamento clínico e aconselhamento genético. Este trabalho tem como objetivo informar sobre os principais exames atualmente disponíveis para a investigação de rearranjos cromossômicos em pacientes com retardo mental idiopático, incluindo cariótipo com bandeamento G, hibridação in situ fluorescente (FISH), cariotipagem espectral (SKY), amplificação de múltiplas sondas dependente de ligação (MLPA) e hibridação genômica comparativa em array (array-CGH). Mental retardation is a condition that affects 2%-3% of the population and more than half of the cases are still deemed idiopathic. Its etiology is heterogeneous and chromosome abnormalities play a significant role. The application of classical cytogenetic and molecular cytogenetic techniques has enabled accurate diagnosis in several cases, which allows better clinical monitoring and genetic counseling. This paper aims at informing about the major tests currently available to investigate chromosome abnormalities in patients with idiopathic mental retardation, including GTG-banded karyotyping, fluorescence in situ hybridization (FISH), spectral karyotyping (SKY), multiplex ligation-dependent probe amplification (MLPA) and array-comparative genomic hybridization (array-CGH).
Keywords	Retardo mental ; Cariótipo ; FISH ; SKY ; MLPA ; Array-CGH ; Mental retardation ; Karyotype ; Pathology ; RB1-214 ; Medicine ; R ; DOAJ:Pathology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Language	English
Publishing date	2012-02-01T00:00:00Z
Publisher	Sociedade Brasileira de Patologia Clínica
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Factors Associated With Mortality in Patients With Immune-Mediated Rheumatic Diseases and COVID-19 From Latin America: Data From Argentina, Mexico, and Brazil.

Isnardi, Carolina Ayelen / Alpizar-Rodriguez, Deshire / Calderaro, Débora Cerqueira / Marques, Claudia Diniz Lopes / Pons-Estel, Guillermo Javier / Xavier, Ricardo Machado / Saurit, Verónica / Pisoni, Cecilia Nora / Tissera, Yohana Soledad / D'Angelo Exeni, Maria Eugenia / Alba, Paula / Pereira, Dora / Gobbi, Carla Andrea / Gamba, Maria Julieta / Alfaro, María Agustina / Virasoro, Belén María / Colunga-Pedraza, Iris Jazmín / Irazoque-Palazuelos, Fedra / Reyes-Cordero, Greta /

Rodriguez-Reyna, Tatiana S / Veloz-Aranda, Jose Antonio / Skinner-Taylor, Cassandra Michele / Juárez-Mora, Ingrid Maribel / Silveira, Luis H / Pacheco Tena, Cesar Francisco / Xibille-Friedmann, Daniel Xavier / Ferreira, Gilda Aparecida / Kakehasi, Adriana Maria / Pinheiro, Marcelo Medeiros / Gomides, Ana Paula Monteiro / Pileggi, Gecilmara Cristina Salviato / da Mota, Licia Maria Henrique / Dos Reis-Neto, Edgard Torres / Ribeiro, Sandra Lúcia Euzébio / de Azevedo Valadares, Lilian David / Martínez-Martínez, Marco Ulises

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases

2023 Volume 30, Issue 1, Page(s) e9–e17

Abstract: Objective: To describe characteristics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with rheumatic immune-mediated inflammatory diseases (IMIDs) from Argentina, Mexico and Brazil, and to assess factors associated ...

Abstract	Objective: To describe characteristics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with rheumatic immune-mediated inflammatory diseases (IMIDs) from Argentina, Mexico and Brazil, and to assess factors associated with mortality in this population. Methods: Data from 3 national registries, SAR-COVID (Argentina), CMR-COVID (Mexico), and ReumaCoV-Brasil (Brazil), were combined. Adult patients with IMIDs and SARS-CoV-2 infection were recruited. Sociodemographic data, comorbidities, IMID clinical characteristics and treatment, and SARS-CoV-2 infection presentation and outcomes were recorded. Results: A total of 4827 individuals were included: 2542 (52.7%) from SAR-COVID, 1167 (24.2%) from CMR-COVID, and 1118 (23.1%) from ReumaCoV-Brasil. Overall, 82.1% were female with a mean age of 49.7 (SD, 14.3) years; 22.7% of the patients were hospitalized, and 5.3% died because of COVID-19 (coronavirus disease 2019). Argentina and Brazil had both 4% of mortality and Mexico 9.4%. In the multivariable analysis, older age (≥60 years; odds ratio [OR], 7.4; 95% confidence interval [CI], 4.6-12.4), male sex (OR, 1.5; 95% CI, 1.1-2.1), living in Mexico (OR, 3.0; 95% CI, 2.0-4.4), comorbidity count (1 comorbidity: OR, 1.5; 95% CI, 1.0-2.1), diagnosis of connective tissue disease or vasculitis (OR, 1.8; 95% CI, 1.3-2.4), and other diseases (OR, 2.6; 95% CI, 1.6-4.1) compared with inflammatory joint disease, high disease activity (OR, 4.2; 95% CI, 2.5-7.0), and treatment with glucocorticoids (OR, 1.9; 95% CI, 1.4-2.5) or rituximab (OR, 4.2; 95% CI, 2.7-6.6) were associated with mortality. Conclusions: Mortality in patients with IMIDs was particularly high in Mexicans. Ethnic, environmental, societal factors, and different COVID-19 mitigation measures adopted have probably influenced these results.
MeSH term(s)	Adult ; Humans ; Male ; Female ; Middle Aged ; COVID-19 ; SARS-CoV-2 ; Mexico/epidemiology ; Latin America ; Argentina/epidemiology ; Brazil/epidemiology ; Rheumatic Diseases/epidemiology ; Immunomodulating Agents
Chemical Substances	Immunomodulating Agents
Language	English
Publishing date	2023-11-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	1283266-2
ISSN	1536-7355 ; 1076-1608
ISSN (online)	1536-7355
ISSN	1076-1608
DOI	10.1097/RHU.0000000000002038
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 4815: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Alegra, Taciane / Sperb-Ludwig, Fernanda / Guarany, Nicole Ruas / Ribeiro, Erlane M. / Lourenço, Charles M. / Kim, Chong Ae / Valadares, Eugênia R. / Galera, Marcial Francis / Acosta, Angelina X. / Horovitz, Dafne Dain Gandelman / Schwartz, Ida Vanessa Doederlein

Journal of Pediatric Genetics

2019 Volume 08, Issue 04, Page(s) 198–204

Abstract	Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3). The median age at diagnosis was 2.7 years. The predominant clinical presentations were skeletal symptoms. The ML II patients showed physical and cognitive impairment, while the ML III α/beta patients have more somatic abnormalities and usually were delayed in early development as compared with ML III gamma patients. This is the most comprehensive study exploring characteristics of Brazilian patients with MLs II and III.
Keywords	mucolipidosis II ; mucolipidosis III α/beta ; mucolipidosis III gamma
Language	English
Publishing date	2019-09-24
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ISSN	2146-460X ; 2146-4596
ISSN (online)	2146-460X
ISSN	2146-4596
DOI	10.1055/s-0039-1697605
Database	Thieme publisher's database

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED