Clinical symptoms in atypical nonketotic hyperglycinemia (NKH) are heterogeneous, in
sharp contrast to uniform severe neurological symptoms in the classical NKH. A review of …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Abstracts Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine
metabolism characterized by elevated concentrations of glycine in plasma, urine and …

Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by
accumulation of glycine in body fluids and various neurological symptoms. NKH is caused …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Objective. To identify a characteristic pattern of health and illness for adolescents with
asthma, we compared the health status of teenagers with asthma to those without asthma …

Non-ketotic hyperglycinemia (NKH), also termed glycine encephalopathy (MIM 605899), is
an autosomal recessive inborn error of glycine degradation which leads to severe …

Transient nonketotic hyperglycinemia represents a clinical presentation initially
indistinguishable from the classic neonatal nonketotic hyperglycinemia. In patients with …

Coeliac disease has been associated with a variety of neurological conditions, most
frequently cerebellar ataxia and peripheral neuropathy. To date, chorea has not been …

Recently, a new disease entity has been defined: the disease of vanishing white matter. This
leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or …