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1 xplaining combined malonic and methylmalonic aciduria.
2 slation of mRNA therapy for argininosuccinic aciduria.
3 tor therapeutic response in argininosuccinic aciduria.
4  disorder, cataracts, and 3-methylglutaconic aciduria.
5 tions in individuals with 3-methylglutaconic aciduria.
6  to assemble holo-MCM leads to methylmalonic aciduria.
7 both severe homocystinuria and methylmalonic aciduria.
8 active enzyme and resulting in methylmalonic aciduria.
9 etardation of patients with 4-hydroxybutyric aciduria.
10  human patients suffering from methylmalonic aciduria.
11 been identified in humans with methylmalonic aciduria.
12  development and leads to alpha-ketoglutaric aciduria.
13 ponsible for the human disease methylmalonic aciduria.
14 ts encoding gene underlie cblB methylmalonic aciduria.
15 , MMAA, has been implicated in methylmalonic aciduria.
16 gene identified here result in methylmalonyl aciduria.
17 4-hydroxybutyric (gamma-hydroxybutyric, GHB) aciduria.
18 ree fatty acids, and nonketotic dicarboxylic aciduria.
19 athy with neutropenia and 3-methylglutaconic aciduria.
20 et movement disorder, and 3-methylglutaconic aciduria.
21 .2) result in the mut forms of methylmalonic aciduria.
22                           3-methylglutaconic aciduria (3-MGA-uria) is a nonspecific finding associate
23 biochemical signature consisting of glutaric aciduria, 3-hydroxyglutaric aciduria, and increased plas
24 ciencies in the mutase lead to methylmalonic aciduria, a rare disease that is fatal in the first year
25 lonyl-CoA mutase (MCM) lead to methylmalonyl aciduria, a rare disease that is often fatal in newborns
26 , Skd3 variants linked to 3-methylglutaconic aciduria, a severe mitochondrial disorder, display dimin
27 clude alpha-aminoadipic and alpha-ketoadipic aciduria (AMOXAD), a rare disorder of l-lysine, l-hydrox
28 homolog of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism that can be fata
29 man ortholog of MeaB result in methylmalonic aciduria, an inborn error of metabolism.
30 mologue of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism.
31 ASL deficiency present with argininosuccinic aciduria, an inherited metabolic disease with hyperammon
32 hree lines showed a markedly reduced organic aciduria and fatty liver, which are sensitive indicators
33 rozygotes for mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene.
34 s interaction with MMADHC (the methylmalonic aciduria and homocystinuria type C protein), or CblC, an
35                    MMADHC (the methylmalonic aciduria and homocystinuria type D protein), commonly re
36 tions in the cblC gene lead to methylmalonic aciduria and homocystinuria.
37 kinase activity has been linked to mevalonic aciduria and hyperimmunoglobulinemia D/periodic fever sy
38 tions are associated with 3-methylglutaconic aciduria and neutropenia; however, the molecular mechani
39 topathy in a patient with 3-methylglutaconic aciduria and to expand the clinical phenotype associated
40 g, and mutations in CblD cause methylmalonic aciduria and/or homocystinuria.
41 X, described in a patient with methylmalonic aciduria, and characterized the associated biochemical p
42  with poor feeding, hypotonia, methylmalonic aciduria, and elevated plasma homocysteine and harbored
43 thy, skeletal myopathy, neutropenia, organic aciduria, and growth retardation caused by mutations in
44 ting of glutaric aciduria, 3-hydroxyglutaric aciduria, and increased plasma glutarylcarnitine.
45 , growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations i
46  revealed fasting hypoglycemia, dicarboxylic aciduria, and reduced activity of the electron transport
47 fore be added to urea cycle defects, organic acidurias, and pyruvate carboxylase deficiency as a trea
48 se deficiency, argininemia, argininosuccinic aciduria, aromatic L-amino acid decarboxylase deficiency
49 described combined malonic and methylmalonic aciduria as a biochemical manifestation.
50                             Argininosuccinic aciduria (ASA) is an autosomal recessive urea cycle diso
51 nital ASL deficiency causes argininosuccinic aciduria (ASA), the second most common urea-cycle disord
52                                    Mevalonic aciduria because of mutations of the gene for mevalonate
53 defects in this enzyme lead to methylmalonyl aciduria, but the corresponding ATR gene has not been id
54 an homologue of MeaB result in methylmalonic aciduria, but the role of this protein in coenzyme B12 a
55 ciated with a syndrome of 3-methylglutaconic aciduria, cataracts, neurologic disease, and variable ne
56 chemical penalties incurred by methylmalonic aciduria-causing mutations that reside at the MMAA-MMUT
57 gically compelling candidates, methylmalonic aciduria cblB type (MMAB) and mevalonate kinase (MVK).
58  basis of combined malonic and methylmalonic aciduria (CMAMMA).
59 y, decreased stature, and 3-methylglutaconic aciduria, confirmed by tafazzin gene deletion.
60 e neurometabolic syndrome D2-hydroxyglutaric aciduria (D2HGA).
61 that appears to be the most frequent organic aciduria detected in tandem mass spectrometry-based neon
62 ardation was later diagnosed to have fumaric aciduria due to the combination of a previously known (c
63 nts did not develop an abnormal dicarboxylic aciduria during fasting.
64                           3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy
65                                      Fumaric aciduria (fumaric acidemia, fumarase deficiency) is a ra
66 R has been cloned; a transgenic model of GHB aciduria has been developed; GABAB receptor knockout mic
67 tations in MMAA that result in methylmalonic aciduria have been mapped onto MeaB and, in conjunction
68 bolism tyrosinemia type II, argininosuccinic aciduria, homocystinuria, and phenylketonuria demonstrat
69 me aconitase, development of a urine organic aciduria in conjunction with a partial defect in 3-hydro
70  which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seiz
71 ny of the mutations that cause methylmalonic aciduria in humans affect residues in the C-terminal reg
72 A lead to the genetic disorder methylmalonic aciduria in which the body is unable to process certain
73 onuria was discovered by screening for amino acidurias in the progeny of ethylnitrosourea-mutagenized
74 eloped a distinctive and marked dicarboxylic aciduria, including saturated, unsaturated, and 3-hydrox
75 withdrawal caused recurrent abnormal organic aciduria, indicating intracellular biotin deficiency.
76 e disorder is detected when 4-hydroxybutyric aciduria is present on urine organic acid analysis, and
77 ase (SSADH) deficiency (gamma-hydroxybutyric aciduria) is one of the few neurogenetic disorders of GA
78                         l-2-Hydroxyglutarate aciduria (L-2-HGA) is an autosomal recessive neurometabo
79                  Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) is a neuro-ophthalmologic sy
80 metabolic condition; type 3-methylglutaconic aciduria (MGA).
81 yltransferase (hATR) result in methylmalonyl aciduria (MMA), a rare but life-threatening illness.
82                                Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalony
83 comparable in severity with the dicarboxylic aciduria of children with primary defects of mitochondri
84  1, maple syrup urine disease, methylmalonic aciduria, ornithine transcarbamylase deficiency, phenylk
85                           Propionic acidemia/aciduria (PA) is an ultra-rare, life-threatening, inheri
86 pionyl-CoA carboxylase (PCC) cause propionic aciduria (PA).
87 n cell lines derived from cblB methylmalonyl aciduria patients compared with cell lines from normal i
88                5-Oxoprolinuria (pyroglutamic aciduria) resulting from glutathione synthetase (GSS) de
89 ide the first evidence that 4-hydroxybutyric aciduria, resulting from SSADH deficiency, is the result
90                                      Fumaric aciduria should be included in the differential diagnosi
91  involved in human pathologies such as amino acidurias, tumor growth and invasion, viral infection an
92 eening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found th
93                                     Glutaric aciduria type 1 (GA1) is an inborn error of lysine degra
94 ne-dependent epilepsy (ALDH7A1) and glutaric aciduria type 1 (GCDH).
95 Finally, a brain-injured adult with glutaric aciduria type 1 had regional perfusion values within the
96                                 All glutaric aciduria type 1 patients had wide middle cerebral, inter
97 udied injured and non-injured Amish glutaric aciduria type 1 patients using magnetic resonance imagin
98 sch Nyhan disease), PANK2 and GCDH (Glutaric Aciduria type 1).
99                                  In glutaric aciduria type 1, glutaryl-coenzyme A and its derivatives
100 ric acid, a pattern consistent with glutaric aciduria type 3 (GA3).
101 llochaperone MeaB in bacteria [methylmalonic aciduria type A (MMAA) in humans] is responsible for fac
102       Mutations in ATR lead to methylmalonic aciduria type B, an inborn error of B(12) metabolism.
103 bolism and due to mutations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC).
104                                     Glutaric aciduria type I (GA-1) is an inborn error of metabolism
105  autosomal recessive human disease, glutaric aciduria type I (GA-1), glutaryl-CoA dehydrogenase (GCDH
106 nces in therapy for IEMs (including glutaric aciduria type I, urea cycle disorders, mitochondrial dis
107                          D-2-hydroxyglutaric aciduria type II (D2HGA2) is a severe inborn disorder of
108 ays features of recessive 3-methylglutaconic aciduria type III was studied.
109    SKD3 deficiency causes 3-methylglutaconic aciduria type VII (MGCA7) and early death in infants, wh
110                                     Glutaric aciduria type-1 (GA1) is an inherited mitochondrial neur
111                  However, 3-methylglutaconic aciduria was not observed and, other than neutropenia, t
112              Substantial reduction in orotic aciduria was observed within 24 h of treatment.
113        The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%).
114  to a pediatric patient having methylmalonic aciduria, whereas the right graft was allocated to an ad
115 ly affected individuals showed 2-oxoglutaric aciduria, which can be seen in DOORS syndrome, suggestin
116 etabolic diseases D- and L-2-hydroxyglutaric aciduria, which lead to the accumulation of D-HGA and L-
117  recessive disorder called primary metabolic aciduria, which typically kills victims because of an in

 
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