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1 ime of delivery to prevent fetal hypoxia and acidemia.
2 trophy and enamel hypomineralization without acidemia.
3  urine disease, methylmalonic, and propionic acidemia.
4 sma bicarbonate insufficiency that underlies acidemia.
5 bacteremia, inflammatory markers, and lactic acidemia.
6 ecular weight proteinuria, phosphaturia, and acidemia.
7 e.g. in propionic acidemia and methylmalonic acidemia.
8 hormone concentrations, as well as metabolic acidemia.
9 s the molecular basis of mutations in lactic acidemia.
10 sponsible for enzyme deficiency in propionic acidemia.
11 y, hyperlipidemia, hyperuricemia, and lactic acidemia.
12  not associated with detrimental respiratory acidemia.
13 yme result in the mut forms of methylmalonic acidemia.
14 ting for the treatment of PKAN and propionic acidemia.
15 onate use among critically ill patients with acidemia.
16 e-associated neurodegeneration and propionic acidemias.
17 ents with mitochondrial disorders or organic acidemias.
18 ial dysfunction is a feature of this organic acidemia, a background-modified Mut-knockout mouse model
19                      Persistent hypotension, acidemia/acidosis, and elevated Pao2 after 24 hours of E
20                                    Propionic acidemia/aciduria (PA) is an ultra-rare, life-threatenin
21 r alpha PCC or beta PCC results in propionic acidemia, an autosomal recessive disorder.
22 odes of encephalopathy accompanied by lactic acidemia and had exercise intolerance and proximal myopa
23                       Combined methylmalonic acidemia and homocystinuria (cblC) is the most common in
24 cobalamin metabolism, combined methylmalonic acidemia and hyperhomocysteinemia, cblC type, is caused
25 f an X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia, designated cblX.
26 oped metabolic acidosis, as well as profound acidemia and hypoglycemia.
27                                              Acidemia and increased anion gap, markers of systemic hy
28 ctical or contraindicated, e.g. in propionic acidemia and methylmalonic acidemia.
29 sets, monocytes and neutrophils from organic acidemia and mitochondrial patients who were not on anti
30 n a tissue-specific fashion in methylmalonic acidemia and suggest treatment approaches based on impro
31 were associated with significant respiratory acidemia and therefore should be avoided.
32 nclear which nonrenal signs are secondary to acidemia and which are a direct consequence of NBCe1 los
33 focus on subgroups such as those with severe acidemia and/or advanced renal insufficiency.
34 f extracorporeal treatment for correction of acidemia and/or enhanced elimination.
35 s controversial for the treatment of organic acidemias and fulminant hepatic failure.
36 D) caused phenotypes associated with organic acidemias and other IEMs, including reduced body weight,
37 ate strategies for the management of organic acidemias and other rare IEMs.
38 enetic (hypomorphic mouse model of propionic acidemia) and acquired (thioacetamide-induced acute live
39 hepatic failure, refractory epilepsy, lactic acidemia, and coma.
40  the 21 subjects developed acute respiratory acidemia at peak exercise before and after surgery, resp
41 acorporeal system targeted to correct severe acidemia by lowering plasma chloride concentration.
42                 Mouse models of pRTA exhibit acidemia, corneal edema, weak dental enamel, impacted co
43  with the patients with GKD having metabolic acidemia during their episodic crises.
44 n treatment pigs, soon after reaching target acidemia, electrodialysis was started to restore pH.Meas
45 aracterized in part by brain lesions, lactic acidemia, excretion of ethylmalonic acid, and ultimately
46                    Fumaric aciduria (fumaric acidemia, fumarase deficiency) is a rare inborn error of
47 ystinuria, methylmalonic acidemia, propionic acidemia, glutaric acidemia type 1, glutaric acidemia ty
48 s in branched amino acid metabolism (organic acidemias), have been shown to be associated with impair
49 e biochemical perturbations of methylmalonic acidemia, hyperhomocysteinemia and hypomethioninemia cau
50   All subjects manifested early-onset lactic acidemia, hypotonia, and developmental delay caused by s
51 congenital sensorineural deafness and lactic acidemia in association with combined respiratory chain
52  human diseases propionic- and methylmalonic acidemia, in which the canonical B12-dependent propionat
53                                    Propionic acidemia is a rare autosomal recessive inborn error of m
54                                   Isovaleric acidemia is a rare inborn error of metabolism caused by
55                                   Rationale: Acidemia is a severe condition among critically ill pati
56                                Methylmalonic acidemia is an autosomal recessive inborn error of metab
57 to give bicarbonate to a patient with severe acidemia is apt to be all but irresistible.
58                                   Isovaleric acidemia (IVA) is a recessive disorder caused by a defic
59                                   Isovaleric acidemia (IVA) is an inborn error of leucine metabolism
60 n fibroblasts from a patient with isovaleric acidemia leading to a shift in reading frame and prematu
61 ssembly, and activity suggest that propionic acidemia may be amenable to chaperone therapy.
62             Persistent systolic hypotension, acidemia/metabolic acidosis, and elevated Pao2) after 24
63      Organic acidemias such as methylmalonic acidemia (MMA) are a group of inborn errors of metabolis
64    Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessive disorders of
65                       Isolated methylmalonic acidemia (MMA) is managed by dietary protein restriction
66                                Methylmalonic acidemia (MMA) is one of the most common inherited metab
67 uding propionic acidemia (PA), methylmalonic acidemia (MMA), and phenylketonuria (PKU).
68  acidemias, propionic (PA) and methylmalonic acidemia (MMA), arise from deficient activity of propion
69                       Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondria
70 opionic acidemia (PA) and mmut methylmalonic acidemia (MMA).
71  and tested in mouse models of methylmalonic acidemia (MMA).
72 tive urine anion gap, alkaline urine despite acidemia, no rise in urine PCO2 with alkaluria, a urine
73  could be an alternative strategy to correct acidemia.Objectives: To evaluate feasibility, safety, an
74 itin-proteasome pathway is stimulated by the acidemia of CRF includes the following findings: (a) An
75 trongly to mortality, it was associated with acidemia only when kidney function was impaired (creatin
76  three missense mutations found in propionic acidemia or methylcrotonylglycinuria patients.
77 result in the metabolic deficiency propionic acidemia or methylcrotonylglycinuria.
78  was performed in a mouse model of propionic acidemia (PA) and in patients' plasma samples to investi
79                                    Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare
80 f zebrafish models of pccb-related propionic acidemia (PA) and mmut methylmalonic acidemia (MMA).
81                                    Propionic acidemia (PA) is a rare autosomal-recessive metabolic di
82                                    Propionic acidemia (PA) is an autosomal recessive condition (OMIM
83                                    Propionic acidemia (PA) is an inborn error of metabolism caused by
84 d by protein deficiency, including propionic acidemia (PA), methylmalonic acidemia (MMA), and phenylk
85 f either gene in humans results in propionic acidemia (PA).
86 blood products (odds ratio, 3.0; p < 0.001), acidemia (pH < 7.35; odds ratio, 2.0; p =.032) and a his
87 urine disease, homocystinuria, methylmalonic acidemia, propionic acidemia, glutaric acidemia type 1,
88                     While the common organic acidemias, propionic (PA) and methylmalonic acidemia (MM
89 severe endurance defects, and chronic lactic acidemia, recapitulating some clinical symptoms describe
90 uffering from the mut- form of methylmalonic acidemia, resulting from defective AdoCbl binding.
91 ylase deficiency, phenylketonuria, propionic acidemia, rhizomelic chondrodysplasia punctata, and the
92 are of questionable value although metabolic acidemia seems helpful for prognostication.
93 s of cblC deficiency including methylmalonic acidemia, severe growth retardation and lethality.
94               The correction of pRTA-related acidemia should not be considered a panacea for all sign
95                        Patients with organic acidemias showed elevated plasma protein carbonyls, whil
96                                      Organic acidemias such as methylmalonic acidemia (MMA) are a gro
97 effectiveness of a novel strategy to correct acidemia through extracorporeal chloride removal by elec
98 lance in mitochondrial disorders and organic acidemias, thus providing a relatively non-invasive mean
99 ers in response to hypoxia, hypercapnia, and acidemia to activate afferent sensory fibers terminating
100 otein misfolding disorders, such as glutaric acidemia type 1 (GA1) disease.
101 lonic acidemia, propionic acidemia, glutaric acidemia type 1, glutaric acidemia type 2, guanidinoacet
102 fect, GABA-transaminase deficiency, glutaric acidemia type 1, maple syrup urine disease, methylmaloni
103 acidemia, glutaric acidemia type 1, glutaric acidemia type 2, guanidinoacetate methyltransferase defi
104                                     Glutaric acidemia type I (GA-I) is an autosomal recessive disorde
105                                     Glutaric acidemia type I (GA-I) is an inherited disorder of lysin
106                                     Glutaric acidemia type I (GA-I) is an inherited neurometabolic ch
107    Fibroblast DNA from 64 unrelated glutaric acidemia type I (GA1) patients was screened for mutation
108 erited defects in the protein cause glutaric acidemia type I, a fatal neurologic disease.
109 deficiency of ETF or ETFDH leads to glutaric acidemia type II, an inherited metabolic disorder that c
110 e human inherited metabolic disease glutaric acidemia type II.
111 fects ETF activity in patients with glutaric acidemia type II.
112                                       Severe acidemia upon ICU admission is associated with very high
113                                  Concomitant acidemia was only observed in the presence of renal dysf
114                                              Acidemia was prevented in CRF rats with NaHCO3.
115  liver from a patient with mut methylmalonic acidemia was studied in a similar fashion.
116  threshold, a marker for the onset of lactic acidemia, was observed at the lowest energy requirement
117 sequences of Nbce1b/c loss in the absence of acidemia, we engineered a novel strain of Nbce1b/c-null
118 use model of the metabolic disease propionic acidemia, we reveal a transcriptional response concomita
119 C results in a metabolic disorder, propionic acidemia, which is sufficiently severe to cause neonatal
120 eficiency of IVD in humans causes isovaleric acidemia, which shows tremendous clinical variability fo
121                      Persistent acidosis and acidemia while on CRRT was a strong predictor of poor ou
122 s to 4 weeks after resolution of respiratory acidemia, who were recruited from 13 UK centers between
123 others, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency,

 
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