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Diagnostic Value of Peak-to-Basal Difference or Ratio of Growth Hormone in Children with Growth Hormone Deficiency [PDF]

open access: yesJ Clin Res Pediatr Endocrinol
Köprülü Ö   +6 more
europepmc   +1 more source

Double Trouble: When Focal and Diffuse Hyperinsulinism Occur Simultaneously.

open access: yesHorm Res Paediatr
Sanders VR   +10 more
europepmc   +1 more source
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Dopa responsive dystonia

BMJ, 2010
Karen Low helps Teresa Harding tell the story of her life with dopa responsive dystonia, which was not diagnosed until she was in her mid ...
Karen, Low   +2 more
openaire   +2 more sources

Punding onL-dopa

Movement Disorders, 1999
"Punding" is a stereotypical motor behavior in which there is an intense fascination with repetitive handling and examining of mechanical objects, such as picking at oneself or taking apart watches and radios or sorting and arranging of common objects, such as lining up pebbles, rocks, or other small objects.
H H, Fernandez, J H, Friedman
openaire   +2 more sources

DOPA Decarboxylase

Movement Disorders, 1996
Udgivelsesdato: 1996 ...
openaire   +3 more sources

Dopa‐responsive dystonia: [18F]dopa positron emission tomography

Annals of Neurology, 1991
AbstractThe syndrome of dopa‐responsive dystonia comprises a minority of patients with dystonia, yet it is of considerable diagnostic importance because patients respond dramatically to L‐dopa therapy. Benefits from this treatment are lasting, and the problems associated with long‐term L‐dopa therapy in patients with Parkinson's disease are generally ...
Sawle, G. V.   +6 more
openaire   +3 more sources

Dopa-responsive dystonia

Current Opinion in Neurology, 1995
The past 18 months have seen significant advances in our understanding of dopa(dihydroxyphenylalanine)-responsive dystonia. Clinical investigations have broadened the spectrum of disease with particular attention manifestations in infancy. Pathophysiological investigations have revealed features that distinguish dopa-responsive dystonia from childhood ...
openaire   +2 more sources

Dopa-responsive dystonia

2011
Clinical characteristics and pahophysiologies of dopa-responsive dystonia are discussed by reviewing autosomal-dominant GTP cyclohydrolase-I deficiency (AD GCHI D), recessive deficiencies of enzymes of pteridine metabolism, and recessive tyrosine hydroxylase (TH).
openaire   +2 more sources

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