Pages that link to "Q24975705"

The following pages link to Congenital lactic acidosis (Q24975705):

Displaying 46 items.

• Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis (Q24676989) (← links)
• Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children (Q28237609) (← links)
• Congenital lactic acidosis: evaluation of the properties of the a199t natural variant of human pyruvate dehydrogenase e1alpha by in vitro mutation (Q32178632) (← links)
• Giant placental angioma with polyhydramnios, high level of alpha-fetoprotein and neonatal congenital lactic acidosis (Q33331766) (← links)
• An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis (Q34072115) (← links)
• Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies (Q34441236) (← links)
• Treatment of congenital lactic acidosis with dichloroacetate (Q35257790) (← links)
• Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate (Q37182886) (← links)
• Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency (Q39158947) (← links)
• Urinary organic acids in a case of congenital lactic acidosis due to pyruvate decarboxylase deficiency (Q39700811) (← links)
• A case of congenital lactic acidosis caused by deficiency of pyruvate dehydrogenase (Q39705585) (← links)
• Congenital lactic acidosis due to pyruvate carboxylase deficiency: Absence of an inhibitor of TPP-ATP phosphoryl transferase (Q40128767) (← links)
• COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis (Q41009054) (← links)
• Congenital lactic acidosis associated with pyruvate carboxylase deficiency. Repository identification No. GM6056. (Q42798802) (← links)
• Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate (Q44292555) (← links)
• Model Informed Dose Optimization of Dichloroacetate for the Treatment of Congenital Lactic Acidosis in Children (Q47978860) (← links)
• Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. (Q48069270) (← links)
• Fatal congenital lactic acidosis in two siblings. II. Biochemical studies in vivo and in vitro (Q48839192) (← links)
• Fatal congenital lactic acidosis in two siblings. I. Clinical and pathological findings (Q48839210) (← links)
• Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. (Q54114879) (← links)
• Clinical Impact of Peritoneal Equilibration Testing in Treatment of Congenital Lactic Acidosis by Acute Peritoneal Dialysis (Q54629584) (← links)
• Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency (Q61813603) (← links)
• Positron emission tomography and magnetic resonance spectroscopy of cerebral glycolysis in children with congenital lactic acidosis (Q63988553) (← links)
• Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency (Q64079842) (← links)
• A Defect in Branched-Chain Amino Acid Metabolism in a Patient with Congenital Lactic Acidosis due to Dihydrolipoyl Dehydrogenase Deficiency (Q67320811) (← links)
• Dichloroacetate as treatment for congenital lactic acidosis (Q67409023) (← links)
• Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings (Q67529516) (← links)
• Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia (Q67581832) (← links)
• Congenital lactic acidosis in children--differential diagnosis in 44 cases (Q67909528) (← links)
• Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity (Q68409842) (← links)
• Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy (Q68464775) (← links)
• Aliphatic C 6 -C 14 dicarboxylic acids in urine from an infant with fatal congenital lactic acidosis (Q69400432) (← links)
• [Recurrent congenital lactic acidosis] (Q69482528) (← links)
• Defective insulin response to intravenous glucose in congenital lactic acidosis (Q70227502) (← links)
• Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylation (Q70451269) (← links)
• Dichloroacetate in the treatment of congenital lactic acidosis (Q70485828) (← links)
• Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis (Q70670228) (← links)
• Congenital lactic acidosis associated with pyruvate carboxylase deficiency (Q71585568) (← links)
• Familial leukoencephalopathy associated with congenital lactic acidosis (Q71759689) (← links)
• Suspected congenital lactic acidosis in an infant with arthrogryposis multiplex congenita. Description of a case (Q71836583) (← links)
• Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency (Q71862329) (← links)
• Encephalopathy and congenital lactic acidosis (apropos of an anatomo-clinical case) (Q72418290) (← links)
• Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate (Q72888817) (← links)
• The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis (Q77765246) (← links)
• Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects (Q102143503) (← links)
• Wikidata:Database reports/Constraint violations/P4317 (← links | edit)