• Publications
  • Influence
Biochemical and molecular investigations in respiratory chain deficiencies.
This paper describes our present strategy for the investigation of respiratory chain disorders in humans. Because very few of the underlying mutations causing mitochondrial disorders in humans areExpand
  • 1,130
  • 47
  • PDF
Branched-chain organic acidurias.
Branched chain organic acidurias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched chain amino acids (leucine, isoleucine, valine).Expand
  • 308
  • 27
Clinical features of 52 neonates with hyperinsulinism.
BACKGROUND Neonatal hyperinsulinemic hypoglycemia is often resistant to medical therapy and is often treated with near-total pancreatectomy. However, the pancreatic lesions may be focal and treatableExpand
  • 283
  • 15
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute encephalopathic crises.Expand
  • 199
  • 14
Recognition and management of fatty acid oxidation defects: A series of 107 patients
In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disordersExpand
  • 287
  • 13
Inborn Metabolic Diseases: Diagnosis and Treatment
Part I: Diagnosis and Treatment: General Principles: Classification and clinical Approach to Inherited Metabolic Diseases in Pediatrics.- Clinical approach to Inherited Metabolic Diseases inExpand
  • 362
  • 12
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.
OBJECTIVE To evaluate the neurologic outcomes of neonates and infants suffering from persistent hyperinsulinemic hypoglycemia of infancy (PHHI). METHODS The neurologic development of 90 PHHIExpand
  • 280
  • 10
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
BACKGROUND The clinical manifestations of inherited disorders of fatty acid oxidation vary according to the enzymatic defect. They may present as isolated cardiomyopathy, sudden death, progressiveExpand
  • 255
  • 10
Carnitine palmitoyltransferase deficiencies.
Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial fatty acid oxidation. The CPT system is made up of two separate proteins located in the outer- (CPT1) andExpand
  • 196
  • 9
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases
Abstract. Hyperinsulinism is a heterogeneous disorder characterised by severe hypoglycaemia due to an inappropriate oversecretion of insulin. In a personal series of 175 patients investigated forExpand
  • 143
  • 9
...
1
2
3
4
5
...