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1.
RSC Adv ; 10(72): 44191-44195, 2020 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-35517135

RESUMO

Monometallic (Pd, Ru or Rh) and bimetallic (Pd0.5-Ru0.5) alloy NPs catalysts were examined for the hydrogenation of quinoline. Pd-Ru alloy catalyst showed superior catalytic activity to the traditional Rh catalyst. The characterization of Pd0.5-Ru0.5 catalysts, HAADF-EDX mapping and XPS analysis suggested that the alloy state of PdRu catalysts remained unchanged in the recovered catalyst. Furthermore, the catalyst was highly selective for the hydrogenation of different arenes.

2.
Orphanet J Rare Dis ; 14(1): 134, 2019 06 11.
Artigo em Inglês | MEDLINE | ID: mdl-31186072

RESUMO

Triglyceride deposit cardiomyovasculopathy (TGCV) is a phenotype primarily reported in patients carrying genetic mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) which releases long chain fatty acid (LCFA) as a major energy source by the intracellular TG hydrolysis. These patients suffered from intractable heart failure requiring cardiac transplantation. Moreover, we identified TGCV patients without PNPLA2 mutations based on pathological and clinical studies. We provided the diagnostic criteria, in which TGCV with and without PNPLA2 mutations were designated as primary TGCV (P-TGCV) and idiopathic TGCV (I-TGCV), respectively. We hereby report clinical profiles of TGCV patients. Between 2014 and 2018, 7 P-TGCV and 18 I-TGCV Japanese patients have been registered in the International Registry. Patients with I-TGCV, of which etiologies and causes are not known yet, suffered from adult-onset severe heart disease, including heart failure and coronary artery disease, associated with a marked reduction in ATGL activity and myocardial washout rate of LCFA tracer, as similar to those with P-TGCV. The present first registry-based study showed that TGCV is an intractable, at least at the moment, and heterogeneous cardiovascular disorder.


Assuntos
Doenças Cardiovasculares/metabolismo , Doenças Raras/metabolismo , Triglicerídeos/metabolismo , Adulto , Idoso , Aterosclerose/genética , Aterosclerose/metabolismo , Doenças Cardiovasculares/patologia , Feminino , Humanos , Lipase/genética , Lipase/metabolismo , Masculino , Pessoa de Meia-Idade , Mutação , Doenças Raras/patologia
3.
Clin Case Rep ; 6(9): 1769-1773, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30214760

RESUMO

We report a case of non-alcoholic steatohepatitis complicated with acute pancreatitis induced by hypertriglyceridemia in a young Japanese woman. A precise examination of the lipid profile showed decreased lipoprotein lipase (LPL) and hepatic triglyceride lipase activity levels, while the LPL mass was at the minimum level of the normal range.

4.
J Oleo Sci ; 67(8): 983-989, 2018 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-30012901

RESUMO

Triglyceride deposit cardiomyovasculopathy (TGCV) is an intractable cardiovascular disease for which a specific treatment is urgently required. In TGCV, adipose triglyceride lipase (ATGL) deficiency results in the abnormal intracellular metabolism of long-chain fatty acid (LCFA) which leads to TG deposition. Medium-chain triglycerides have been used as an important functional food for various human diseases. To address the potential activities of tricaprin, a medium-chain triglyceride, on cardiac dysfunctions of TGCV, we examined the effects of tricaprin diet on Atgl knock out (KO) mice, an animal model for TGCV. Cardiac imaging tests showed that the tricaprin diet reduced TG accumulation, resulting from improvement of LCFA metabolism, and improved left ventricular function in Atgl KO mice compared to that in mice fed the control diet. In conclusion, tricaprin improved myocardial abnormality in the TGCV model, thus, it may be useful for the treatment of patients with TGCV.


Assuntos
Doenças Cardiovasculares/tratamento farmacológico , Doenças Cardiovasculares/metabolismo , Lipase/deficiência , Miocárdio/metabolismo , Triglicerídeos/metabolismo , Animais , Doenças Cardiovasculares/diagnóstico por imagem , Modelos Animais de Doenças , Ácidos Graxos/metabolismo , Coração/diagnóstico por imagem , Humanos , Camundongos Knockout , Triglicerídeos/administração & dosagem
5.
Biochem Biophys Res Commun ; 495(1): 646-651, 2018 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-29146190

RESUMO

Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare and newly identified disease among patients requiring cardiac transplantation. TGCV is characterized by cardiomyocyte steatosis and triglyceride (TG)-deposit atherosclerosis, resulting from the abnormal intracellular metabolism of TG. TGCV is classified into primary and idiopathic types. Primary TGCV carries ultra-rare genetic mutations in the adipose triglyceride lipase (ATGL), a rate-liming enzyme that hydrolyzes intracellular TG in adipose and non-adipose tissues. Idiopathic TGCV, first identified among autopsied individuals with diabetes mellitus (DM) with severe heart diseases, shows no ATGL mutations and its causes and underlying mechanisms are still unknown. TGCV is difficult to diagnose in daily clinics, thereby demanding feasible diagnostic procedures. We aimed to develop an assay to measure ATGL activity using peripheral leucocytes. Human his6-ATGL was expressed in COS1 cells, purified to homogeneity, and used to raise a polyclonal antibody neutralizing TG-hydrolyzing activity of ATGL. We developed a selective immunoinactivation assay (SIIA) for the quantitation of ATGL activity in cell lysates of leucocytes by the antibody neutralizing ATGL activities. ATGL activity was measured in 13 idiopathic TGCV patients, with two patients with primary TGCV as the negative control. Healthy (non-DM) and DM controls without heart diseases were also subjected. The developed SIIA assay revealed significant reduction in ATGL activity in leucocytes from patients with idiopathic TGCV who did not carry ATGL mutations as compared with non-DM and DM controls. Thus, ATGL in leucocytes may be an important biomarker for the diagnosis of TGCV and our assay may provide insights into pathophysiology and elucidate the underlying mechanism of TGCV and related disorders.


Assuntos
Cardiomiopatias/sangue , Cardiomiopatias/enzimologia , Técnicas Imunoenzimáticas/métodos , Leucócitos/enzimologia , Lipase/metabolismo , Idoso , Biomarcadores/metabolismo , Ativação Enzimática , Feminino , Humanos , Leucócitos/imunologia , Lipase/imunologia , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
6.
Extremophiles ; 20(4): 415-24, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27142029

RESUMO

An ionic liquid-tolerant bacterium, Bacillus amyloliquefaciens CMW1, was isolated from a Japanese fermented soybean paste. Strain CMW1 grew in the presence of 10 % (v/v) 1-butyl-3-methylimidazolium chloride ([BMIM]Cl), a commonly used ionic liquid. Additionally, strain CMW1 grew adequately in the presence of the hydrophilic ionic liquids 10 % (v/v) 1-ethyl-3-methylimidazolium trifluoromethanesulfonate ([EMIM]CF3SO3) or 2.5 % (v/v) 1-butyl-3-methylimidazolium trifluoromethanesulfonate ([BMIM]CF3SO3). Strain CMW1 produced an extracellular protease (BapIL) in the culture medium. BapIL was stable in the presence of 80 % (v/v) ionic liquids, [EMIM]CF3SO3, [BMIM]Cl, [BMIM]CF3SO3, 1-butyl-3-methylimidazolium tetrafluoroborate, 1-butyl-3-methylimidazolium hexafluorophosphate, and 1-butyl-3-methylimidazolium bis(trifluoromethylsulfonyl)imide, and functioned in 10 % (v/v) these ionic liquids. BapIL was stable at pH 4.0-12.6 or in 4004 mM NaCl solution, and exhibited activity in the presence of 50 % (v/v) hydrophilic or hydrophobic organic solvents. BapIL was completely inhibited by 1 mM PMSF and partially by 5 mM EDTA. BapIL belongs to the true subtilisins according to analysis of the deduced amino acid sequence. We showed that BapIL from the ionic liquid-tolerant B. amyloliquefaciens CMW1 exhibited tolerance to ionic liquid and halo, alkaline, and organic solvents.


Assuntos
Bacillus amyloliquefaciens/enzimologia , Proteínas de Bactérias/metabolismo , Líquidos Iônicos/farmacologia , Peptídeo Hidrolases/metabolismo , Bacillus amyloliquefaciens/genética , Proteínas de Bactérias/genética , Estabilidade Enzimática/efeitos dos fármacos , Peptídeo Hidrolases/genética
7.
Nihon Rinsho ; 71(9): 1569-76, 2013 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-24205716

RESUMO

Human LPL is a glycoprotein enzyme with a molecular mass of 61 kDa, and it plays a key role in regulating the triglyceride (TG) levels in circulation by hydrolyzing TGs in TG-rich lipoproteins at the first step in their metabolism. Homozygous or compound heterozygous LPL deficiency causes severe fasting hypertriglyceridemia. Heterozygous LPL deficiency usually results in a normolipidemic state, but this may cause mild hypertriglyceridemia if heterozygotes are exposed to factors, such as high alcohol intake and/or a hyperinsulinemic state. Severe fasting hypertriglyceridemia is mainly caused by abnormalities of the LPL gene, whereas there are some cases caused by gene defects relating to synthesis and transport of LPL such as LMF and GPIHBP1, and by an autoantibody to LPL acting as inhibitor of LPL.


Assuntos
Hipertrigliceridemia/genética , Lipase Lipoproteica/genética , Mutação/genética , Patologia Molecular , Povo Asiático/genética , Humanos , Hipertrigliceridemia/diagnóstico , Hipertrigliceridemia/etiologia , Lipase Lipoproteica/metabolismo , Patologia Molecular/métodos , Risco
10.
J Immunoassay Immunochem ; 27(1): 89-102, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16450871

RESUMO

Objectives of this work are to study changes in the immunoreactive HTGL mass during storage under various conditions. In addition, the shelf-life of the HTGL ELISA kit was confirmed. The immunological reactivity of HTGL in PHP stored in the liquid, frozen, or lyophilized state was monitored using purified human PHP-HTGL as the standard material. Furthermore, the long-term stability of the HTGL ELISA kit was ascertained. The immunoreactive HTGL mass in the lyophilized PHP maintained its initial immunological reactivity for at least 26 months at 4 degrees C or lower. The other reagents included in the HTGL ELISA kit also have a long shelf-life when they are stored at 4 degrees C or less. HTGL in PHP was stabilized by lyophilization and can be used as the standard material for HTGL ELISA; the HTGL ELISA kit has a long shelf-life, i.e., more than two years.


Assuntos
Ensaio de Imunoadsorção Enzimática/métodos , Lipase/análise , Anticorpos Monoclonais/imunologia , Estabilidade de Medicamentos , Armazenamento de Medicamentos , Liofilização , Humanos , Lipase/imunologia , Lipase/normas , Fígado/enzimologia , Kit de Reagentes para Diagnóstico , Temperatura , Fatores de Tempo
11.
Diabetes Res Clin Pract ; 72(1): 6-11, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16256241

RESUMO

Elevations in plasma triglyceride (TG) and free fatty acid (FFA) concentrations are generally thought to play a role in the pathogenesis of insulin-resistant diabetes. The objective of this study was to investigate the relationship between hypertriglyceridemia and glucose-stimulated insulin responsiveness in non-diabetic patients. Forty subjects were divided into three BMI-matched groups as follows: one group consisted of 8 patients with a lipoprotein lipase (LPL) deficiency, another consisted of 12 patients with hypertriglyceridemia and a third consisted of 20 subjects with normal TG levels. In response to a 75 g oral glucose tolerance test, plasma insulin levels in the LPL-deficient subjects were higher (106+/-11 microU/ml) than those in the hypertriglyceridemic (69+/-16 microU/ml) and normolipidemic (29+/-3 microU/ml) subjects, at 30 min. On the other hand, their plasma glucose levels (127+/-6 mg/dl) were less than those seen in the normolipidemic group (165+/-9 mg/dl) after 90 min. Thus, LPL-deficient subjects with hypertriglyceridemia displayed an enhanced glucose-stimulated insulin response as well as lower blood glucose levels, the latter of which is not generally seen in those with hypertriglyceridemia and normolipidemia.


Assuntos
Glicemia/metabolismo , Hipertrigliceridemia/fisiopatologia , Insulina/sangue , Lipase Lipoproteica/deficiência , Adulto , Índice de Massa Corporal , Ácidos Graxos não Esterificados/sangue , Feminino , Humanos , Hipertrigliceridemia/sangue , Masculino , Pessoa de Meia-Idade , Triglicerídeos/sangue
12.
Anal Sci ; 21(12): 1437-41, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16379382

RESUMO

A ferrocenylnaphthalene diimide (FND)-based electrochemical hybridization assay (FND-EHA) was applied to the detection of two mutations in human lipoprotein lipase (LPL) gene, G188E (one base transition) and Arita (one base deletion). A probe oligodeoxyribonucleotide of 13 bases representing the wild type (WT) sequence of LPL was immobilized on a gold electrode, followed by hybridization with a sample PCR product of 350 base pairs under conditions in which both WT and mutated (MT) sequences could form a duplex with the probe. The hybridized electrodes were soaked in an electrolyte containing FND under conditions in which only the mismatched duplex could undergo dissociation. FND was concentrated in proportion to the amount of the duplex remaining on the electrode to give rise to a current signal. Blind tests were run to judge the genotype (WT/WT, WT/MT, or MT/MT) of 10 samples each for the G188E and Arita mutations and then, 8 and 10 of them were judged correctly, respectively.


Assuntos
Eletroquímica/métodos , Compostos Ferrosos/química , Imidas/química , Lipase Lipoproteica/genética , Sequência de Bases , Primers do DNA , Genótipo , Humanos , Hibridização de Ácido Nucleico , Polimorfismo de Nucleotídeo Único
13.
Phytochemistry ; 66(23): 2729-33, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16229870

RESUMO

Two unusual triterpenoids, (24S)-24-methyl-25,32-cyclo-5alpha-lanosta-9(11)-en-3beta-ol and (24S)-24-methyl-25,32-cyclo-cycloartane-3beta-ol, were isolated from leaves of Pandanus boninensis along with known triterpenoids and lignans. Their structures were established on the basis of spectroscopic methods and X-ray analysis.


Assuntos
Pandanaceae/química , Triterpenos/química , Cristalografia por Raios X , Lignanas/química , Lignanas/isolamento & purificação , Espectroscopia de Ressonância Magnética , Estrutura Molecular , Triterpenos/isolamento & purificação
14.
Nucleic Acids Res ; 32(18): e141, 2004 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-15498924

RESUMO

We describe the development of a new type of DNA array chip that utilizes electrochemical reactions and a novel method of simultaneously identifying multiple genetic mutations on an array chip. The electrochemical array (ECA) uses a threading intercalator specific to double-stranded nucleotides, ferrocenylnaphthalene diimide (FND), as the indicator. ECA does not require target labeling, and the equipment is simple, durable and less expensive. The simultaneous multiple mutation detection (SMMD) system using an ECA chip and FND utilizes an enzyme to simultaneously distinguish several genetic mutations such as single nucleotide polymorphism (SNP), insertion, deletion, translocation and short tandem repeat. We examined this SMMD system using an ECA chip, by detecting seven different mutations on the lipoprotein lipase (LPL) gene for 50 patients in a blind test. It turned out that all the results obtained were concordant with the sequencing results, demonstrating that this system is a powerful tool for clinical applications.


Assuntos
Análise Mutacional de DNA/métodos , Eletroquímica/métodos , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Compostos Ferrosos/química , Humanos , Imidas/química , Lipase Lipoproteica/genética
16.
Yakugaku Zasshi ; 123(7): 587-91, 2003 Jul.
Artigo em Japonês | MEDLINE | ID: mdl-12875241

RESUMO

The present study describes how to process human postheparin plasma (PHP) containing hepatic triglyceride lipase (HTGL) that is utilized as a standard material of HTGL for the quantification of HTGL mass in human plasma. The optimal storage conditions for PHP were established by monitoring the stability of HTGL molecules in PHP as an antigen, which was stored in the liquid, frozen, or lyophilized state, using purified human PHP-HTGL as the standard material and a commercial HTGL ELISA MARUPI kit, which is a direct sandwich enzyme-linked immunosorbent assay (ELISA). The HTGL ELISA MARUPI kit, for which the validity was confirmed by precision and dilution tests, showed that the immunoreactive mass of HTGL in lyophilized PHP remained stable for at least 12 months at a storage temperature of 4 degrees C or lower. These results indicate that lyophilized PHP stored at a temperature of less than 4 degrees C can be utilized as the standard material for the quantification of HTGL in human plasma using the HTGL ELISA MARUPI kit.


Assuntos
Ensaio de Imunoadsorção Enzimática/métodos , Lipase Lipoproteica/sangue , Lipase Lipoproteica/normas , Fígado/enzimologia , Kit de Reagentes para Diagnóstico/normas , Armazenamento de Medicamentos , Liofilização , Temperatura , Fatores de Tempo
17.
J Clin Endocrinol Metab ; 88(6): 2541-7, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12788851

RESUMO

Previously we have reported on siblings with severe hypercholesterolemia, xanthomas, and premature atherosclerosis without any impairment of low-density lipoprotein receptor in their fibroblasts as a first characterization of autosomal recessive hypercholesterolemia (ARH). Recently, mutations were identified for this disease in a gene encoding a putative adaptor protein. The purpose of this study was to examine the molecular pathogenesis of ARH in Japanese siblings. A novel insertion mutation was discovered in the ARH gene of the siblings. An insertion of an extra cytosine residue was identified in a locus comprising eight consecutive cytosines at positions 599 through 606 in exon 6, resulting in a sequence of nine cytosines and generating an early stop codon at 657-659. The mother was heterozygous for this mutation. Neither transcription product nor protein of ARH was detected in the fibroblasts of the homozygous patients. A single nucleotide polymorphism was discovered among the normal control subjects at position 604 (cytosine to thymine: ARH-604C to ARH-604T), which changes the proline residue at 202 to serine. Interestingly, ARH is caused by a mutation of cytosine to adenine at this same position. Both siblings exhibited fatty liver, which may also be related to this mutation.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal , Proteínas Adaptadoras de Transporte Vesicular/genética , Genes Recessivos , Hipercolesterolemia/genética , Hipercolesterolemia/fisiopatologia , Adulto , Sequência de Aminoácidos/genética , Substituição de Aminoácidos , Northern Blotting , Western Blotting , Mapeamento Cromossômico , Códon , Citosina , Elementos de DNA Transponíveis , Feminino , Humanos , Hipercolesterolemia/complicações , Metabolismo dos Lipídeos , Fígado/metabolismo , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Xantomatose/etiologia , Xantomatose/patologia
18.
Anal Sci ; 19(1): 79-83, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12558028

RESUMO

A ferrocenylnaphthalene diimide-based electrochemical hybridization assay (FND-EHA) was applied to the direct detection of a C-to-G transition in a codon (TCA) for Ser-447 of the human lipoprotein lipase (LPL) gene, which resulted in the termination of the LPL protein there. Either one of two 13-meric oligonucleotide probes, S447 WT and S447X MT, representing sequences complementary to those of the wild type (WT) and mutated (MT) forms, was immobilized on a gold electrode, followed by hybridization with chromosomal DNA extracted from human leukocytes under the condition in which both WT- and MT-type sequences can form a duplex. These two electrodes were soaked in an electrolyte containing FND under a condition [0.1 M HOAc/KOAc (pH 5.6) containing 0.1 KCl and 0.05 mM FND at 40 degrees C], in which only the MT duplex could undergo dissociation. FND was concentrated in proportion to the amount of the duplex formed on the electrode to give rise to a current signal. The electrochemical signal ratios obtained for WT/WT, WT/MT and MT/MT were close to the theoretical 2:1:0 with the S447 WT-modified electrode, and was again close to 0:1:2 with the S447X MT-modified one.


Assuntos
DNA/química , Eletroquímica/métodos , Compostos Ferrosos/química , Imidas/química , Polimorfismo de Nucleotídeo Único , Sequência de Bases , Primers do DNA , Humanos , Lipase Lipoproteica/genética , Hibridização de Ácido Nucleico
19.
Bioconjug Chem ; 13(6): 1193-9, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12440853

RESUMO

An electrochemical hybridization assay has been devised that enables the rapid analysis of a heterozygous deficiency of the human lipoprotein lipase (LPL) gene. PCR products of 350 base pairs (bp) containing the wild-type sequence, a mutated G(818) --> A transition or a G(916) deletion of the LPL gene were subjected to hybridization with a probe DNA of 13 or 15 bases that represented either the wild-type or the mutated sequence immobilized on a gold electrode. The differential pulse voltammetry of the electrode before and after hybridization was determined in the presence of ferrocenylnaphthalene diimide (FND) at 460 mV. The measured change in peak current, Deltai, was defined by (i - i(o))/i(o) x 100%, where i(o) and i represent the current before and after hybridization, respectively. Matched combinations of sample and probe gave Deltai values of 40-90%, whereas mismatched combinations gave values of 20-35%, enabling the discrimination of matched hybrids from mismatched ones across a slim margin. Because the heterozygote contains both the wild-type and mutated sequences, however, it alone gives large Deltai values with both the wild- and mutant-type probes. This system was validated on 10 unknown samples of each of the two types of LPL mutation, which were correctly identified in every case.


Assuntos
Eletroquímica/métodos , Compostos Ferrosos , Heterozigoto , Hiperlipoproteinemia Tipo I/diagnóstico , Hiperlipoproteinemia Tipo I/genética , Imidas , Lipase Lipoproteica/genética , Mutação/genética , Hibridização de Ácido Nucleico/métodos , Sequência de Bases , Sondas de DNA , Humanos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
20.
Clin Chim Acta ; 316(1-2): 179-85, 2002 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11750290

RESUMO

CASE REPORT: A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members (n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (GG(716)C-->GTC/Gly(154) Val) in exon 5 and a novel splice mutation (Int8/5'-dss/t(+2)c; a T-to-C transition in the invariant GT at position +2 of the 5' donor splice site (dss)) in intron 8 of the LPL gene. RESULTS: The patient's father and paternal grandmother were heterozygotes for the Int8/5'-dss/t(+2)c allele, while the patient's mother and maternal grandmother were heterozygotes for the G154V allele. These four heterozygous carriers with one defective LPL allele showed 45-57% of the mean LPL activity and mass in the post-heparin plasma (PHP) observed in normal individuals. Among the four heterozygous carriers, the patient's father, who was <40 years old, nonobese and hyperinsulinemia, manifested mild hypertriglyceridemia (type IV hyperlipoproteinemia). The remaining three healthy heterozygous carriers (two were >40 years old and the other was <40 years old) were all normolipidemic state. CONCLUSION: In this family, hyperinsulinemia as a marker of insulin resistance may be a strong determinant of hypertriglyceridemia in the carrier with heterozygous LPL deficiency.


Assuntos
Hiperinsulinismo/genética , Hiperlipoproteinemia Tipo I/genética , Hipertrigliceridemia/genética , Mutação/genética , Adulto , Idoso , Pré-Escolar , Saúde da Família , Feminino , Marcadores Genéticos , Heterozigoto , Humanos , Lactente , Resistência à Insulina/genética , Japão , Lipase Lipoproteica/genética , Lipase Lipoproteica/metabolismo , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Linhagem , Sítios de Splice de RNA/genética
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