Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease

Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease

Item
http://www.wikidata.org/entity/Q28322389
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.Magnetic resonance imaging in lactic acidosis.The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survivalHepatic, gut, and renal substrate flux rates in patients with hepatic cirrhosis.Organic acidurias: a review. Part 1.3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.Therapy of mitochondrial disorders.Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease).Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria.Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome.Mild mitochondrial uncoupling does not affect mitochondrial biogenesis but downregulates pyruvate carboxylase in adipocytes: role for triglyceride content reduction.Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia.Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy.Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.Lactic acidosis due to pyruvate carboxylase deficiency.
P2860

Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease

Item
http://www.wikidata.org/entity/Q28322389
description
1979 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1979 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1979
@ast
im Februar 1979 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: February 1979)
@en
vedecký článok (publikovaný 1979-02)
@sk
vědecký článek publikovaný v roce 1979
@cs
wetenschappelijk artikel (gepubliceerd in 1979-02)
@nl
наукова стаття, опублікована в лютому 1979
@uk
مقالة علمية (نشرت في فبراير 1979)
@ar
name
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@ast
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@en
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@nl
type
label
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@ast
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@en
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@nl
prefLabel
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@ast
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@en
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P577
P5875
P6179
P698
P356
P1433
P1476
Pyruvate carboxylase deficienc ...... child without Leigh's disease
@en
P2093
P2888
P304
P31
P356
10.1203/00006450-197902000-00005
P407
P433
P478
P577
P5875
P6179
P698