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  1. Article: Renal hypouricemia as the cause of exercise-induced acute kidney injury.

    Lee, Haeun / Kang, Donghyuk / Lee, Hanbi / Yim, Jisook / Kim, Myungshin / Park, Cheol Whee

    Kidney research and clinical practice

    2023  Volume 42, Issue 4, Page(s) 534–537

    Language English
    Publishing date 2023-05-18
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 2656420-8
    ISSN 2211-9132
    ISSN 2211-9132
    DOI 10.23876/j.krcp.23.015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene.

    Choi, Ko-Eun / Yim, Jisook / Kim, Myungshin / Lee, Jung Hwan

    Journal of clinical neurology (Seoul, Korea)

    2022  Volume 18, Issue 2, Page(s) 244–246

    Language English
    Publishing date 2022-03-10
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 2500489-X
    ISSN 2005-5013 ; 1738-6586
    ISSN (online) 2005-5013
    ISSN 1738-6586
    DOI 10.3988/jcn.2022.18.2.244
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Hereditary renal hypouricemia with SLC22A12 mutation: A case report.

    Yim, Jisook / Kim, Myungshin / Suh, Jin-Soon

    Pediatrics and neonatology

    2021  Volume 63, Issue 2, Page(s) 202–203

    MeSH term(s) Humans ; Mutation ; Organic Anion Transporters/genetics ; Organic Cation Transport Proteins/genetics ; Renal Tubular Transport, Inborn Errors/genetics ; Urinary Calculi/genetics
    Chemical Substances Organic Anion Transporters ; Organic Cation Transport Proteins ; SLC22A12 protein, human
    Language English
    Publishing date 2021-10-14
    Publishing country Singapore
    Document type Case Reports ; Letter
    ZDB-ID 2441816-X
    ISSN 2212-1692 ; 1875-9572
    ISSN (online) 2212-1692
    ISSN 1875-9572
    DOI 10.1016/j.pedneo.2021.08.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1083: 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)

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  4. Article: Muscle mass has a greater impact on serum creatinine levels in older males than in females.

    Yim, Jisook / Son, Nak-Hoon / Kyong, Taeyoung / Park, Yongjung / Kim, Jeong-Ho

    Heliyon

    2023  Volume 9, Issue 11, Page(s) e21866

    Abstract: Background and aims: We analyzed the effects of age and sex on the relationship between muscle mass and serum creatinine levels in an apparently healthy population, including older adults.: Materials and methods: We retrospectively evaluated 1,502 ... ...

    Abstract Background and aims: We analyzed the effects of age and sex on the relationship between muscle mass and serum creatinine levels in an apparently healthy population, including older adults.
    Materials and methods: We retrospectively evaluated 1,502 individuals from the Korea National Health and Nutrition Examination Survey (KNHANES) and 4,586 individuals from the Health Check (HC) groups. We utilized data from the KNHANES and HC groups on serum creatinine levels and skeletal muscle mass index (SMI), determined using dual X-ray absorptiometry or bioelectric impedance analysis.
    Results: A significant negative correlation between SMI and age was observed in both the KNHANES and HC groups in males but not in females. In males, serum creatinine levels showed a significant negative correlation with age in both the KNHANES (
    Conclusions: Serum creatinine levels decrease more significantly in older males than in older females due to sex-specific muscle mass decline.
    Language English
    Publishing date 2023-11-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 2835763-2
    ISSN 2405-8440
    ISSN 2405-8440
    DOI 10.1016/j.heliyon.2023.e21866
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  5. Article ; Online: A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of

    Shin, Chungwoo / Kim, Sung Eun / Moon, Cheong Jun / Yoo, Il Han / Yim, Jisook / Cho, Won-Kyong / Kim, Myungshin / Lee, Jung Hyun

    Annals of clinical and laboratory science

    2023  Volume 53, Issue 4, Page(s) 667–670

    Abstract: X-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in ... ...

    Abstract X-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the
    MeSH term(s) Male ; Child ; Humans ; Hypoadrenocorticism, Familial/genetics ; Gene Deletion ; High-Throughput Nucleotide Sequencing ; Mutation ; DAX-1 Orphan Nuclear Receptor/genetics
    Chemical Substances NR0B1 protein, human ; DAX-1 Orphan Nuclear Receptor
    Language English
    Publishing date 2023-08-25
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 193092-8
    ISSN 1550-8080 ; 0091-7370 ; 0095-8905
    ISSN (online) 1550-8080
    ISSN 0091-7370 ; 0095-8905
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 942: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article: Andersen-Tawil Syndrome With Novel Mutation in

    Yim, Jisook / Kim, Kyoung Bo / Kim, Minsun / Lee, Gun Dong / Kim, Myungshin

    Frontiers in pediatrics

    2022  Volume 9, Page(s) 790075

    Abstract: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic ... ...

    Abstract Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic variants of the inwardly rectifying potassium channel subfamily J member 2 (KCNJ2) gene have been linked to the ATS. Herein, we report a novel
    Language English
    Publishing date 2022-01-31
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2021.790075
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: CSF1R-related leukoencephalopathy with parkinsonism and dementia: functional neuroimaging findings.

    Im, Hansol / Yoo, Sang-Won / Ye, Byung-Seok / Yim, Jisook / Kim, Joong-Seok

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2022  Volume 44, Issue 5, Page(s) 1799–1801

    MeSH term(s) Humans ; Leukoencephalopathies/complications ; Leukoencephalopathies/diagnostic imaging ; Neuroimaging/methods ; Parkinsonian Disorders/complications ; Parkinsonian Disorders/diagnostic imaging ; Receptor Protein-Tyrosine Kinases ; Dementia/diagnostic imaging ; Dementia/etiology ; Functional Neuroimaging ; Mutation
    Chemical Substances Receptor Protein-Tyrosine Kinases (EC 2.7.10.1)
    Language English
    Publishing date 2022-12-29
    Publishing country Italy
    Document type Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-022-06588-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1877: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article: Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report.

    Kim, Shin-Hee / Kim, Minsung / Yim, Jisook / Kim, Myungshin / Jang, Dae-Hyun

    Frontiers in pediatrics

    2021  Volume 9, Page(s) 650920

    Abstract: SHORT syndrome is a rare autosomal dominant disorder characterized by multiple congenital defects and is historically defined by its acronym: ...

    Abstract SHORT syndrome is a rare autosomal dominant disorder characterized by multiple congenital defects and is historically defined by its acronym:
    Language English
    Publishing date 2021-06-23
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2021.650920
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: 18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review.

    Choi, Ji Young / Moon, Ja Un / Yoon, Da Hye / Yim, Jisook / Kim, Myungshin / Jung, Min Ho

    Children (Basel, Switzerland)

    2022  Volume 9, Issue 7

    Abstract: 18p deletion (18p-) syndrome is a rare chromosome abnormality that has a wide range of phenotypes, with short stature, intellectual disability, and facial dysmorphism being the main clinical features. Here, we report the first case in Korea of a 16-year- ... ...

    Abstract 18p deletion (18p-) syndrome is a rare chromosome abnormality that has a wide range of phenotypes, with short stature, intellectual disability, and facial dysmorphism being the main clinical features. Here, we report the first case in Korea of a 16-year-old male adolescent with 18p- syndrome resulting from de novo unbalanced whole-arm translocation between chromosomes 13 and 18 (45, XY, der(13;18)(q10:q10)). Three rare clinical findings were discovered that had not been reported in the previous literature; morbid obesity without other hormonal disturbances, rib cage deformity leading to the direct compression of the liver, and lumbar spondylolisthesis at the L5-S1 level. This case expands the phenotypic spectrum of 18p- syndrome and highlights the importance of considering chromosomal analysis, since this syndrome can be easily overlooked in a clinical setting, especially without distinctive symptoms of other organs, due to its nonspecific but typical features of short stature and mild intellectual disability with a mildly dysmorphic face. Moreover, since not all cases of 18p- syndrome with unbalanced translocation (13;18) show the same phenotype, multidisciplinary examinations and follow-up seem to be important to monitor evolving and developing clinical manifestations and to predict prognosis in advance associated with the specific genes of 18p breakpoint regions.
    Language English
    Publishing date 2022-07-01
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2732685-8
    ISSN 2227-9067
    ISSN 2227-9067
    DOI 10.3390/children9070987
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1.

    Kim, Jaewon / Lee, Dong-Woo / Jang, Ja-Hyun / Kim, Myungshin / Yim, Jisook / Jang, Dae-Hyun

    Frontiers in pediatrics

    2021  Volume 9, Page(s) 628190

    Abstract: Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy. He presented with proximal muscle weakness and elevated creatine ... ...

    Abstract Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy. He presented with proximal muscle weakness and elevated creatine phosphokinase levels. A multiplex ligation-dependent probe amplification study of
    Language English
    Publishing date 2021-02-26
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2021.628190
    Database MEDical Literature Analysis and Retrieval System OnLINE

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