ライフサイエンスコーパス: inborn

1 umans learn to imitate; this capacity is not inborn.

2 n perceive children's food preferences to be inborn.

3 ouse as a potentially useful murine model of inborn and acquired abnormalities of human fatty acid ut

4 Inborn and acquired defects in opsonin generation and/or

5 d stem cells are in clinical development for inborn and acquired liver diseases and could represent a

6 ter to distinguish between immunity which is inborn and that which has been acquired" (The Inborn Fac

7 erythropoietic anemia type 1 (CDA-1), a rare inborn anemia characterized by abnormal chromatin ultras

8 l instability, for example, in patients with inborn aneuploidy.

9 disease (CHD) represents the most prevalent inborn anomaly.

10 the domestic chicken, to demonstrate that an inborn auditory perceptual predisposition is transferabl

11 All inborn babies with type 1 zone 1 ROP at the Neonatal Int

12 All inborn babies with type 1 zone I ROP at a single institu

13 Inborn brain differences in metabolic capacity were mapp

14 Here we show that the same mutations as inborn de novo mutations cause an early onset multisyste

15 Inborn defects in both kinds of cilia cause human ciliop

16 The phenotype was reminiscent of inborn defects in fatty acid oxidation and of fasted PPA

17 Multiple inborn defects in metabolic circuitries accelerate aging

18 etabolic byproducts that arise from specific inborn defects of tyrosine catabolism.

19 embers and X-ist, which potentially leads to inborn differences between males and females and their d

20 to Ace-K, highlighting a potential role for inborn differences in vulnerability to overconsumption o

21 imary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and ge

22 , mutations in the corresponding genes cause inborn diseases of amino acid metabolism, most of which

23 elevance in hereditary pancreatitis, a human inborn disorder associated with mutations in the cationi

24 Although initially described as an inborn disorder of affective contact, information on aut

25 Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis that in many cases is

26 Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis.

27 Severe congenital neutropenia is an inborn disorder of granulopoiesis.

28 mophagocytic lymphohistiocytosis (HLH) is an inborn disorder of immune regulation caused by mutations

29 Now known as a Garrodian inborn error caused by the homozygous state of many diff

30 Here, we describe a newly recognized inborn error due to the deficiency of P5CS in two siblin

31 in early life in humans and define a further inborn error in bile acid synthesis as a metabolic cause

32 se intolerance (HFI) is a potentially lethal inborn error in metabolism caused by mutations in the al

33 in CBS are known to cause homocystinuria, an inborn error in metabolism.

34 ehydrogenase (DPD) deficiency constitutes an inborn error in pyrimidine metabolism associated with th

35 nt of vasculitis, drug removal, support from inborn error metabolism, multiorgan system failure, prim

36 erapies for phenylketonuria, the most common inborn error of amino acid metabolism.

37 hese findings define a potentially treatable inborn error of bile acid biosynthesis caused by ACOX2 d

38 The most common inborn error of bile acid metabolism is 3beta-hydroxy-De

39 RSH/SLOS is due to an inborn error of cholesterol biosynthesis caused by mutat

40 Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis characterized b

41 The most common inborn error of cobalamin metabolism, combined methylmal

42 This is the second inborn error of coenzyme A biosynthesis to be implicated

43 MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in man

44 Fabry disease is an inborn error of glycosphingolipid catabolism, resulting

45 , cause Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism.

46 Gaucher disease is an autosomal recessive inborn error of glycosphingolipid metabolism caused by t

47 hepatic porphyria, is an autosomal dominant inborn error of heme biosynthesis due to the half-normal

48 hropoietic porphyria, an autosomal recessive inborn error of heme biosynthesis, results from the mark

49 icacy of treating a large-animal model of an inborn error of hepatocyte metabolism in conjunction wit

50 tosomal dominant STAT4 deficiency as a novel inborn error of IL-12-dependent IFN-gamma immunity assoc

51 Thus, human MDA5 deficiency is a novel inborn error of innate and/or intrinsic immunity that ca

52 Hereditary hemochromatosis (HH) is a common inborn error of iron metabolism characterized by excess

53 Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause signif

54 functional effect in a large animal model of inborn error of liver metabolism.

55 Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront

56 An inborn error of metabolism associated with mutations in

57 Isovaleric acidemia is a rare inborn error of metabolism caused by a deficiency of iso

58 ylmalonic acidemia is an autosomal recessive inborn error of metabolism caused by defective activity

59 ric acidemia, fumarase deficiency) is a rare inborn error of metabolism caused by deficient activity

60 Propionic acidemia (PA) is an inborn error of metabolism caused by the genetic deficie

61 ase kinase has also been implicated in a new inborn error of metabolism characterized by autism, inte

62 Sialuria is a rare inborn error of metabolism characterized by cytoplasmic

63 eta-synthase (CBS) deficiency is a recessive inborn error of metabolism characterized by elevated ser

64 deficiency (MoCD) is an autosomal recessive inborn error of metabolism characterized by neurodegener

65 s enzyme as the cause of PGM1 deficiency, an inborn error of metabolism classified as both a glycogen

66 Mutations in the TNAP gene result in the inborn error of metabolism known as hypophosphatasia, ch

67 sor of 7-ketocholesterol has relevance to an inborn error of metabolism known as Smith-Lemli-Opitz sy

68 Primary hyperoxaluria type 1 (PH1) is an inborn error of metabolism resulting from a deficiency o

69 Fabry disease is an X-linked inborn error of metabolism resulting from deficient acti

70 aB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism that can be fatal.

71 in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeleta

72 Our data reveal a potentially frequent inborn error of metabolism that results from MTO deficie

73 ients with leukemia, BM failure syndrome, or inborn error of metabolism were eligible for a phase I c

74 ch transcriptional dysregulation leads to an inborn error of metabolism with a complex clinical pheno

75 e identification of NTCP deficiency as a new inborn error of metabolism with a relatively mild clinic

76 cerol kinase deficiency (GKD) is an X-linked inborn error of metabolism with metabolic and neurologic

77 deficiency in humans is a well characterized inborn error of metabolism, and APRT may contribute to t

78 U, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newb

79 dividuals from two families with a recessive inborn error of metabolism, characterized by megaloblast

80 represents the first reported case of a new inborn error of metabolism, DMGDH deficiency.

81 Phenylketonuria is an inborn error of metabolism, involving, in most cases, a

82 of MeaB result in methylmalonic aciduria, an inborn error of metabolism.

83 1, result in ethylmalonic encephalopathy, an inborn error of metabolism.

84 aB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism.

85 athionine beta-synthase (CBS) deficiency, an inborn error of metabolism.

86 Homocystinuria is an inborn error of methionine metabolism that results in ra

87 o acid decarboxylase (AADC) deficiency is an inborn error of monoamine neurotransmitter synthesis, wh

88 This is the first documented report of an inborn error of P5CS and suggests that this disorder sho

89 at NLS represents the extreme end of a known inborn error of serine metabolism and highlights the pow

90 Classical homocystinuria (HCU) is an inborn error of sulfur amino acid metabolism caused by d

91 stinuria (HCU) is a serious life-threatening inborn error of sulfur metabolism with poorly understood

92 iency is a rare disorder characterized by an inborn error of the catabolism of the inhibitory neurotr

93 a neonatal bovine model of citrullinemia, an inborn error of urea-cycle metabolism characterized by d

94 n of dalmatians in the attempt to cure their inborn error of uric acid metabolism.

95 etic porphyria (CEP), an autosomal recessive inborn error, results from the deficient but not absent

96 iseases reflect a relatively new category of inborn error.

97 description of the molecular basis for this inborn error.

98 t of PGM3 function leads to a novel primary (inborn) error of development and immunity because bialle

99 iciency of PLP in the brain can be caused by inborn errors affecting B6 vitamer metabolism or by inac

100 olving information on a new group of genetic inborn errors affecting ubiquitination and proteasomal d

101 rspective, we discuss emerging evidence that inborn errors in immunity constitute real-life models th

102 s, the study of genetic defects arising from inborn errors in immunity has resulted in the discovery

103 The ability to incriminate single-gene inborn errors in immunodeficient patients results from t

104 Our findings may help explain human inborn errors in propionate metabolism.

105 ata indicate a potentially causal link among inborn errors in SETX, susceptibility to infection and t

106 However, inborn errors in STAT4, which controls interleukin-12 (I

107 We propose that inborn errors in the human ATR gene identified here resu

108 Such deficiencies can result from inborn errors in the MCM structural gene or from mutatio

109 Inborn errors in Toll-like receptor 3 (TLR3)-IFN type I

110 of malignant brain tumours in patients with inborn errors of 2HG metabolism.

111 in MMACHC represent the most common cause of inborn errors of B(12) metabolism, and our results expla

112 absorption in children and adolescents with inborn errors of bile acid metabolism due to amidation d

113 Inborn errors of bile acid metabolism may present as neo

114 Inborn errors of Cacna1a, the P/Q-type voltage-gated cal

115 ronic mucocutaneous candidiasis (CMC), while inborn errors of caspase recruitment domain-containing p

116 Inborn errors of cholesterol synthesis are associated wi

117 Inborn errors of cholesterol synthesis cause human malfo

118 Inborn errors of cholesterol synthesis underlie a group

119 and ichthyosis are laminopathies rather than inborn errors of cholesterol synthesis.

120 se and that HEM dysplasia and ichthyosis are inborn errors of cholesterol synthesis.

121 malformation syndromes, which are caused by inborn errors of cholesterol synthesis.

122 ynthase and is impaired in the cblC group of inborn errors of cobalamin disorders.

123 tions has been clarified by the discovery of inborn errors of cytokines, hormones, and their receptor

124 Inborn errors of DNA repair or replication underlie a va

125 Inborn errors of each of the urea cycle enzymes occur in

126 The possibility that inborn errors of energy metabolism may cause structural

127 Inborn errors of fatty acid oxidation (FAO) represent a

128 The inborn errors of heme biosynthesis, the porphyrias, are

129 iPSCs to screen for potential treatments for inborn errors of hepatic metabolism and suggest that car

130 Urea cycle disorders are a group of inborn errors of hepatic metabolism that result in often

131 ctious diseases has led to the definition of inborn errors of human STAT1 immunity of four types, inc

132 Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B cells

133 illustrated by the discovery of single-gene inborn errors of IFN-gamma immunity underlying severe ca

134 ich trigger mycobacterial diseases and mimic inborn errors of IFN-gamma immunity, is genetically dete

135 D) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt dia

136 he discovery and characterization of several inborn errors of immune-related genes that underlie inhe

137 Here we consider inborn errors of immunity arising from mutations in eith

138 Human inborn errors of immunity mediated by the cytokines inte

139 e absence of overt risk factors, single-gene inborn errors of immunity should be sought in children a

140 We hypothesized that rare single-gene inborn errors of immunity to HHV-8 may underlie classic

141 We hypothesized that inborn errors of immunity to HHV-8 might underlie the ex

142 portance of the recently described monogenic inborn errors of immunity underlying resistance or susce

143 ctions may also result from hitherto unknown inborn errors of immunity, at least in some patients wit

144 ation and understanding of this novel set of inborn errors of immunity, the human type I interferonop

145 to search for the corresponding single-gene inborn errors of immunity.

146 medicine, particularly the growing field of inborn errors of immunity.

147 genetic diagnosis of patients with monogenic inborn errors of immunity.

148 severe influenza may result from single-gene inborn errors of immunity.

149 g adults have been attributed to single-gene inborn errors of immunity.

150 underlie mucocutaneous candidiasis, whereas inborn errors of interferon-gamma (IFN-gamma) immunity u

151 More rarely, inborn errors of interferon-gamma immunity underlie ende

152 Inborn errors of interleukin-17 immunity have recently b

153 Patients with inborn errors of interleukin-17F (IL-17F) or IL-17RA dis

154 estigations suggest that CD may be caused by inborn errors of macrophages.

155 nd accurate quantification of biomarkers for inborn errors of metabolism (IEM) from dried blood spots

156 been made in the treatment of patients with inborn errors of metabolism (IEM),(1) resulting in incre

157 Inborn errors of metabolism (IEMs) are a large class of

158 xidation disorders are among the most common inborn errors of metabolism affecting infants and childr

159 Mutations in many CYP genes cause inborn errors of metabolism and contribute to many clini

160 MMA concentrations are a hallmark of several inborn errors of metabolism and indicators of cobalamin

161 Children with HCM associated with inborn errors of metabolism and malformation syndromes h

162 erlap with known loci for complex disorders, inborn errors of metabolism and pharmacological targets.

163 ned a gene panel targeting 614 genes causing inborn errors of metabolism and tested its diagnostic ef

164 ral role in the pathophysiology of both rare inborn errors of metabolism and the more common multifac

165 tabolic abnormalities, storage diseases, and inborn errors of metabolism are described.

166 drial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments

167 ers of autophagy' as an emerging subclass of inborn errors of metabolism by using the examples of six

168 ficiencies in these enzyme activities due to inborn errors of metabolism cause neuronal ceroid lipofu

169 Fatty acid oxidation (FAO) defects are inborn errors of metabolism clinically associated with c

170 Inborn errors of metabolism commonly present around the

171 Some inborn errors of metabolism due to deficiencies of solub

172 development of gene-replacement therapy for inborn errors of metabolism has been hindered by the lim

173 Newborn screening for inborn errors of metabolism has improved the diagnosis a

174 ting insulin or insulin-like molecules or by inborn errors of metabolism impairing liver glucose prod

175 ect multiple compounds diagnostic of diverse inborn errors of metabolism in neonatal dried blood spec

176 olase deficiency is one of a growing list of inborn errors of metabolism in the non-oxidative part of

177 variants as a cause of potentially treatable inborn errors of metabolism manifesting with MADD and sh

178 N-methyl-d-aspartate-encephalitis or inborn errors of metabolism may present after birth with

179 ps of de novo purine synthesis lead to human inborn errors of metabolism often characterized by menta

180 Thirteen of the 17 genes are associated with inborn errors of metabolism or other pediatric genetic c

181 t for those who presented as infants or with inborn errors of metabolism or with mixed hypertrophic a

182 ations between defective autophagy and other inborn errors of metabolism such as lysosomal storage di

183 olesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type

184 be included in the differential diagnosis of inborn errors of metabolism that cause cerebral malforma

185 ted to the discovery and ability to diagnose inborn errors of metabolism that mimicked RS clinically,

186 f human conditions, ranging from devastating inborn errors of metabolism to aging.

187 ctrum of human disorders, ranging from rare, inborn errors of metabolism to common, age-associated di

188 s as well as in urine from patients with the inborn errors of metabolism tyrosinemia type II, arginin

189 t before coming to our outpatient clinic for inborn errors of metabolism was worried that isolated AS

190 This represents one of only a few inborn errors of metabolism where the molecular defect h

191 Novel inborn errors of metabolism with informative amino acid

192 s <18 years of age with HCM, 8.7% (n=74) had inborn errors of metabolism, 9.0% (n=77) had malformatio

193 g Parkinson's disease, Huntington's disease, inborn errors of metabolism, and cancer.

194 tant therapy for hematological malignancies, inborn errors of metabolism, and immunodeficiency disord

195 lems when used in patients with a variety of inborn errors of metabolism, but effects of nitrous oxid

196 Heritable mutations, known as inborn errors of metabolism, cause numerous devastating

197 For many inborn errors of metabolism, early treatment is critical

198 n with pure hypertrophic cardiomyopathy with inborn errors of metabolism, for whom the estimated rate

199 conditions associated with CM, classified as inborn errors of metabolism, malformation syndromes, neu

200 However, the exception is inborn errors of metabolism, since many of these disorde

201 Lysosomal storage diseases are inborn errors of metabolism, the hallmark of which is th

202 r the genetic basis of potentially treatable inborn errors of metabolism, we combined deep clinical p

203 malities, congenital immunodeficiencies, and inborn errors of metabolism, were identified.

204 sented for the population level screening of inborn errors of metabolism.

205 pothesized by Archibald Garrod in 1908 to be inborn errors of metabolism.

206 f FAO and OXPHOS are among the most frequent inborn errors of metabolism.

207 iciency of the PDH complex and perhaps other inborn errors of metabolism.

208 and neuropathology, including their related inborn errors of metabolism.

209 lantation of more than 2 dozen hepatic-based inborn errors of metabolism.

210 preventive medicine in children with diverse inborn errors of metabolism.

211 osed as having other diseases, most commonly inborn errors of metabolism.

212 with the severe reductions seen in inherited inborn errors of metabolism.

213 been reported in other riboflavin-responsive inborn errors of metabolism.

214 ting novel coding variants that may underlie inborn errors of metabolism.

215 in the general population that may underlie inborn errors of metabolism.

216 cur when compounds accumulate as a result of inborn errors of other pathways or when small molecules

217 Inborn errors of OXPHOS function are termed primary mito

218 Two inborn errors of purine metabolism, deficiencies of aden

219 istic basis for the pathophysiology of human inborn errors of purine nucleotide metabolism.

220 ongenital adrenal hyperplasia is a family of inborn errors of steroidogenesis, each characterized by

221 nd Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells th

222 Inborn errors of the genes encoding two of the four huma

223 A significant proportion of patients with inborn errors of the mitochondrial respiratory chain exh

224 Inborn errors of the phagocyte NADPH oxidase complex (ch

225 Study of inborn errors of the respiratory chain is now focussed o

226 Surprisingly, the known human patients with inborn errors of the TLR3 pathway have remained healthy

227 This review describes the human inborn errors of this pathway and recent results concern

228 cephalitis (HSE) may result from single-gene inborn errors of TLR3 immunity.

229 erpes simplex virus 1 (HSV-1), children with inborn errors of toll-like receptor 3 (TLR3) immunity ar

230 nectome useful for the genetic dissection of inborn errors of Toll-like receptor 3 immunity.

231 Inborn errors resulting in isolated functional methionin

232 Immunodeficiency due to inborn errors, infections, autoimmune diseases and the t

233 ients can decipher the genetic basis of rare inborn errors.

234 ell's inherent DNA repair systems to correct inborn errors.

235 to expand and advance newborn screening for inborn errors.

236 cope and efficiency of newborn screening for inborn errors.

237 Mutations causing inborn ether phospholipid deficiency, a very severe gene

238 nborn and that which has been acquired" (The Inborn Factors in Disease).

239 ons, including basic research, therapies for inborn genetic defects, cancer, AIDS, tissue engineering

240 oimmunity is often familial, suggesting that inborn genetic variations might underlie its development

241 of hepatocyte transplantation in the cure of inborn hepatic metabolic errors.

242 insight into mutations in DHCR7 and LBR for inborn human diseases.

243 alent, although very heterogeneous, group of inborn immunodeficiencies, with a puzzling complexity of

244 On the basis of the hypothesis of a rare inborn immunodeficiency of autosomal recessive inheritan

245 Inborn infants at 29 weeks 0 days to 36 weeks 6 days of

246 Hospital databases and charts of all preterm inborn infants at the University of North Carolina from

247 ort study of data collected prospectively on inborn infants with a birth weight between 401 g and 100

248 ring more than 3 days after birth among VLBW inborn infants.

249 Tay-Sachs disease is an inborn lysosomal disease characterized by excessive cere

250 Tay-Sachs disease, an inborn lysosomal disease featuring a buildup of GM2 in t

251 novel mutants with phenotypes related to the inborn metabolic defect sialuria and metastatic tumor ce

252 A number of inborn metabolic diseases are associated with CDP, inclu

253 Studies of rare, inborn metabolic diseases establish that the phenotypes

254 lain manifesting heterozygous cases in other inborn metabolic diseases.

255 Fabry disease is an X-linked recessive inborn metabolic disorder characterized by systemic and

256 sive investigation to rule out the treatable inborn metabolic disorders that can mimic Reye's syndrom

257 es (LSDs) represent a significant portion of inborn metabolic disorders.

258 They also targeted inborn metabolic errors (e.g., familial hyperlipoprotein

259 small animal models for the amelioration of inborn metabolic errors.

260 osomal storage diseases are a group of rare, inborn, metabolic errors characterized by deficiencies i

261 A potential role for inborn mitochondrial defects in these disorders has not

262 y polycythemias are caused by an acquired or inborn mutation affecting hematopoietic/erythroid progen

263 Data show that inborn mutations in cancer-predisposing genes, such as B

264 tor is required for normal development of an inborn, neonatal behavior.

265 The respective influences of exposure and inborn neural networks on conspecific and nonconspecific

266 raceae have been isolated from patients with inborn or iatrogenic immunodeficiencies.

267 7 of 53 (89%) treated patients, and 23 of 25 inborn patients with isolated CDH survived (92%).

268 that some obesity-prone individuals have an inborn reduction in their ability to sense and respond t

269 limbic-midbrain circuit mediates some of the inborn risk for developing anxiety and depression.

270 the specific neural systems that mediate the inborn risk for these debilitating disorders remain unkn

271 Inborn species' perceptual preferences are thought to se

272 that racial differences can be attributed to inborn susceptibility linked to inheritance of specific

273 Omnivores, including humans, have an inborn tendency to avoid noxious or unfamiliar foods.

274 selectively bred for low or high intrinsic (inborn) treadmill running capacity.

275 human genetic theory of infectious diseases, inborn variants underlie life-threatening infectious dis

276 ETTING, AND PATIENTS: Cohort study of 72,235 inborn VLBW infants weighing 501 to 1500 g born in 558 V