B Pietschnig,F Haschke
B Pietschnig
Review
Padiatrie und Padologie. 1993;28(2):49-50. DOI: 1993
[Guidelines for completing a medical certificate for obtaining a higher rate of family assistance in atopic dermatitis] [0.03%]
特应性皮炎医疗证明以获取较高家庭补助率的指南
W Stögmann
W Stögmann
This paper gives guidelines for medical doctors in which cases of atopic dermatitis an attestation--according to austrian law--can be given to get an elevated family subvention. Following points have to be taken into consideration: correct ...
I Mutz
I Mutz
Experience with the 3-phenylpropionic acid loading test for diagnosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) [0.03%]
3-苯基丙酸负荷试验在中链酰基辅酶a脱氢酶缺乏症诊断中的应用经验
W Lehnert
W Lehnert
MCADD is an autosomal recessively transmitted inborn error of C6-C12-carboxylic acid metabolism, causing episodically attacks of life threatening hypoketotic hypoglycemia or Reye-syndrome-like disease. Diagnosis is made best by investigatin...
B Molzer
B Molzer
Peroxisomal disorders are a group of inherited metabolic diseases caused by impairment of one or more peroxisomal functions. Ten disorders with neurological involvement have been recognized. Diagnosis and differentiation of these disorders ...
Review
Padiatrie und Padologie. 1993;28(1):43-8. DOI: 1993
E Quentin-Hoffmann,B Harrach,H Robenek et al.
E Quentin-Hoffmann et al.
An overview on the structure of proteoglycans and on genetic defects in proteoglycan biosynthesis is given. Several patients with progeroid-like symptoms have been shown to have abnormalities in the biosynthesis of chondroitin/dermatan sulf...
Review
Padiatrie und Padologie. 1993;28(1):37-41. DOI: 1993
Clinical manifestations of late onset cerebral storage disease: a case of metachromatic leukodystrophy [0.03%]
晚发性脑贮积病的临床表现：异染性白质营养不良1例报告
M Minauf,R Kleinert,F Ebner
M Minauf
Clinical symptoms, MRI of the brain and neuro pathological findings of a case with adult metochromatic leukodystrophy are presented. Clinically it is important to consider a possible late-onset manifestation of an inborn cerebral storage di...
Case Reports
Padiatrie und Padologie. 1993;28(1):33-6. DOI: 1993
W Sperl
W Sperl
Organic acidurias are a group of numerous inherited metabolic disorders with an involvement of different pathways of the amino acid, carbohydrate and lipid metabolism. Many diseases have their onset with an acute metabolic crisis in the new...
Review
Padiatrie und Padologie. 1993;28(1):3-8. DOI: 1993
M Duran,L Bruinvis,D Ketting et al.
M Duran et al.
Inherited defects of mitochondrial beta-oxidation of fatty acids lead to hypoketotic hypoglycemia during prolonged fasting. Affected patients may present with episodes of a Reye-like illness or even sudden child death. The number of current...
Review
Padiatrie und Padologie. 1993;28(1):19-25. DOI: 1993
Defects in mitochondrial fatty acid oxidation: clinical presentations and their role in sudden infant death [0.03%]
线粒体脂肪酸氧化缺陷：临床表现及其与婴儿猝死的关系
R J Pollitt
R J Pollitt
Defects in mitochondrial beta-oxidation may result in severe metabolic crisis after metabolic stress. The combination of hypoketotic hypoglycaemia and concurrent collapse of mitochondrial metabolic function may be very similar to that in Re...
Review
Padiatrie und Padologie. 1993;28(1):13-7. DOI: 1993