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Article
Health care utilization in persons with spinal cord injury: part 1—outpatient services
This was a cross-sectional questionnaire survey.
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Article
Health care utilization in persons with spinal cord injury: part 2—determinants, geographic variation and comparison with the general population
Cross-sectional survey.
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Article
The characteristics of posttraumatic syringomyelia
Retrospective cross-sectional study.
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Article
Mutation analysis in 54 propionic acidemia patients
Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular level, PCC in 54 patients from 48 families comprise...
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Article
Propionic acidemia: neonatal versus selective metabolic screening
Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse.
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Article
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
Published data on treatment of fatty acid oxidation defects are scarce. Treatment recommendations have been developed on the basis of observations in 75 patients with long-chain fatty acid oxidation defects fr...
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Article
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
At present, long-chain fatty acid oxidation (FAO) defects are diagnosed in a number of countries by newborn screening using tandem mass spectrometry. In the majority of cases, affected newborns are asymptomati...
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Article
Successful control of methicillin-resistant Staphylococcus aureus in a spinal cord injury center: a 10-year prospective study including molecular ty**
Prospective cohort study with medical record review.
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Chapter
Querschnittlähmung: Akutbehandlung und Rehabilitation
Eine Querschnittlähmung entsteht durch akute oder chronische Schädigung des Rückenmarks (nach Unfall oder durch Krankheit). Die Unterbrechung der darin verlaufenden motorischen, sensiblen und vegetativen Bahne...
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Article
Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the regulation of plasma homocysteine levels. MTHFR deficiency, an autosomal recessive disorder, results in homocystinuria and hypomethioninaemia ...
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Article
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: Two novel cases
This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III def...
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Article
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay
Molecular diagnosis of N-acetylglutamate synthase deficiency (NAGSD) has become possible now that the corresponding gene has been identified. We describe the genetic analysis of a patient with NAGSD using low-lev...
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Article
Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T)
Hereditary homocystinuria due to cystathionine β-synthase (CBS) deficiency is a rare disease (about 1:20 000 in Germany) often complicated by thromboembolism. Single mutations, which affect the C-terminal regi...
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Chapter
Signal recognition particle-depencent protein targeting, universal to all kingdoms of life
The signal recognition particle (SRP) and its membrane-bound receptor represent a ubiquitous protein-targeting device utilized by organisms as different as bacteria and humans, archaea and plants. The unifying...
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Article
Unknown peaks in GC-MS analyses of Guthrie cards blood samples might be the result of sample contamination by the black markings of the card
Azelaic acid, sometimes found during analysis of Guthrie card blood samples, may be derived from the printing ink used to mark the spotting area.
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Article
Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria
Recent studies indicate that individual blood–brain transport characteristics of phenylalanine may lead to different clinical outcomes in phenylketonuria (PKU) patients in spite of comparable dietary control. ...
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Article
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characte...
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Article
Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients
In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual dose...
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Chapter and Conference Paper
Hereditary Thrombophilic Risk Profiles in Children with Spontaneous Venous Thromboembolism
Since the recent discovery of activated protein C resistance [6], in the majority of cases due to the factor (FV) G1691A gene mutation [2], evidence has been accumulating that venous thromboembolism is a multi...
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Chapter and Conference Paper
Effect of Vitamin Supplementation in Venous Thrombosis Patients with Hyperhomocysteinemia
Venous thrombosis is a multifactorial disorder with an incidence of about 1–1.6 per 1000 population. In addition to the well-known risk factors for thrombosis (lack of AT or protein S/C, APC resistance or prot...
