ライフサイエンスコーパス: inborn error of metabolism

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

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

3 1, result in ethylmalonic encephalopathy, an inborn error of metabolism.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

30 An inborn error of metabolism associated with mutations in

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

48 Inborn errors of metabolism commonly present around the

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

50 Some inborn errors of metabolism due to deficiencies of solub

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

92 Novel inborn errors of metabolism with informative amino acid