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1 tions in individuals with 3-methylglutaconic aciduria.
2 to assemble holo-MCM leads to methylmalonic aciduria.
3 both severe homocystinuria and methylmalonic aciduria.
4 active enzyme and resulting in methylmalonic aciduria.
5 etardation of patients with 4-hydroxybutyric aciduria.
6 human patients suffering from methylmalonic aciduria.
7 been identified in humans with methylmalonic aciduria.
8 development and leads to alpha-ketoglutaric aciduria.
9 ponsible for the human disease methylmalonic aciduria.
10 ts encoding gene underlie cblB methylmalonic aciduria.
11 , MMAA, has been implicated in methylmalonic aciduria.
12 gene identified here result in methylmalonyl aciduria.
13 4-hydroxybutyric (gamma-hydroxybutyric, GHB) aciduria.
14 disorder, cataracts, and 3-methylglutaconic aciduria.
15 ree fatty acids, and nonketotic dicarboxylic aciduria.
16 athy with neutropenia and 3-methylglutaconic aciduria.
17 et movement disorder, and 3-methylglutaconic aciduria.
18 .2) result in the mut forms of methylmalonic aciduria.
20 ciencies in the mutase lead to methylmalonic aciduria, a rare disease that is fatal in the first year
21 lonyl-CoA mutase (MCM) lead to methylmalonyl aciduria, a rare disease that is often fatal in newborns
22 homolog of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism that can be fata
25 hree lines showed a markedly reduced organic aciduria and fatty liver, which are sensitive indicators
27 s interaction with MMADHC (the methylmalonic aciduria and homocystinuria type C protein), or CblC, an
29 kinase activity has been linked to mevalonic aciduria and hyperimmunoglobulinemia D/periodic fever sy
30 topathy in a patient with 3-methylglutaconic aciduria and to expand the clinical phenotype associated
32 X, described in a patient with methylmalonic aciduria, and characterized the associated biochemical p
33 with poor feeding, hypotonia, methylmalonic aciduria, and elevated plasma homocysteine and harbored
34 thy, skeletal myopathy, neutropenia, organic aciduria, and growth retardation caused by mutations in
35 , growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations i
36 revealed fasting hypoglycemia, dicarboxylic aciduria, and reduced activity of the electron transport
37 fore be added to urea cycle defects, organic acidurias, and pyruvate carboxylase deficiency as a trea
39 nital ASL deficiency causes argininosuccinic aciduria (ASA), the second most common urea-cycle disord
41 defects in this enzyme lead to methylmalonyl aciduria, but the corresponding ATR gene has not been id
42 an homologue of MeaB result in methylmalonic aciduria, but the role of this protein in coenzyme B12 a
43 gically compelling candidates, methylmalonic aciduria cblB type (MMAB) and mevalonate kinase (MVK).
47 that appears to be the most frequent organic aciduria detected in tandem mass spectrometry-based neon
48 ardation was later diagnosed to have fumaric aciduria due to the combination of a previously known (c
52 R has been cloned; a transgenic model of GHB aciduria has been developed; GABAB receptor knockout mic
53 tations in MMAA that result in methylmalonic aciduria have been mapped onto MeaB and, in conjunction
54 bolism tyrosinemia type II, argininosuccinic aciduria, homocystinuria, and phenylketonuria demonstrat
55 me aconitase, development of a urine organic aciduria in conjunction with a partial defect in 3-hydro
56 which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seiz
57 ny of the mutations that cause methylmalonic aciduria in humans affect residues in the C-terminal reg
58 onuria was discovered by screening for amino acidurias in the progeny of ethylnitrosourea-mutagenized
59 eloped a distinctive and marked dicarboxylic aciduria, including saturated, unsaturated, and 3-hydrox
60 withdrawal caused recurrent abnormal organic aciduria, indicating intracellular biotin deficiency.
61 e disorder is detected when 4-hydroxybutyric aciduria is present on urine organic acid analysis, and
62 ase (SSADH) deficiency (gamma-hydroxybutyric aciduria) is one of the few neurogenetic disorders of GA
66 yltransferase (hATR) result in methylmalonyl aciduria (MMA), a rare but life-threatening illness.
68 comparable in severity with the dicarboxylic aciduria of children with primary defects of mitochondri
69 n cell lines derived from cblB methylmalonyl aciduria patients compared with cell lines from normal i
71 ide the first evidence that 4-hydroxybutyric aciduria, resulting from SSADH deficiency, is the result
73 involved in human pathologies such as amino acidurias, tumor growth and invasion, viral infection an
74 eening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found th
75 Finally, a brain-injured adult with glutaric aciduria type 1 had regional perfusion values within the
77 udied injured and non-injured Amish glutaric aciduria type 1 patients using magnetic resonance imagin
80 autosomal recessive human disease, glutaric aciduria type I (GA-1), glutaryl-CoA dehydrogenase (GCDH
81 nces in therapy for IEMs (including glutaric aciduria type I, urea cycle disorders, mitochondrial dis
85 etabolic diseases D- and L-2-hydroxyglutaric aciduria, which lead to the accumulation of D-HGA and L-
86 recessive disorder called primary metabolic aciduria, which typically kills victims because of an in
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