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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 3/2010

Sonderheft 3/2010

Online Reports 2010

Inhaltsverzeichnis ( 80 Artikel )

01.12.2010 | Short Report | Sonderheft 3/2010

Vitamin D deficiency in patients with erythropoietic protoporphyria

01.12.2010 | Short Report | Sonderheft 3/2010

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation

01.12.2010 | Short Report | Sonderheft 3/2010

Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies

01.12.2010 | Research Report | Sonderheft 3/2010

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

01.12.2010 | Case Report | Sonderheft 3/2010

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability

01.12.2010 | Research Report | Sonderheft 3/2010

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography–tandem mass spectrometry

01.12.2010 | Research Report | Sonderheft 3/2010

The monitoring of trace elements in blood samples from patients with inborn errors of metabolism

01.12.2010 | Case Report | Sonderheft 3/2010

Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature?

01.12.2010 | Case Report | Sonderheft 3/2010

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia

01.12.2010 | Case Report | Sonderheft 3/2010

Post-ictal psychosis in adolescent Niemann-Pick disease type C

01.12.2010 | Case Report | Sonderheft 3/2010

Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution

01.12.2010 | Research Report | Sonderheft 3/2010

Social-adaptive and psychological functioning of patients affected by Fabry disease

01.12.2010 | Research Report | Sonderheft 3/2010

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

01.12.2010 | Case Report | Sonderheft 3/2010 Open Access

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

01.12.2010 | Research Report | Sonderheft 3/2010

An overview of a cohort of South African patients with mitochondrial disorders

01.12.2010 | Case Report | Sonderheft 3/2010

Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II

01.12.2010 | Research Report | Sonderheft 3/2010

Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis

01.12.2010 | Case Report | Sonderheft 3/2010

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

01.12.2010 | Case Report | Sonderheft 3/2010

Genotype–phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

01.12.2010 | Research Report | Sonderheft 3/2010

Four years of expanded newborn screening in Portugal with tandem mass spectrometry

01.12.2010 | Case Report | Sonderheft 3/2010 Open Access

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome

01.12.2010 | Research Report | Sonderheft 3/2010

Combined hyperlipidemia in patients with lysinuric protein intolerance

01.12.2010 | Case Report | Sonderheft 3/2010

Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries

01.12.2010 | Case Report | Sonderheft 3/2010

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations

01.12.2010 | Research Report | Sonderheft 3/2010

Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment

01.12.2010 | Case Report | Sonderheft 3/2010

Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect

01.12.2010 | Research Report | Sonderheft 3/2010

Profound biotinidase deficiency: a rare disease among native Swedes

01.12.2010 | Case Report | Sonderheft 3/2010 Open Access

Fatal cerebral edema associated with serine deficiency in CSF

01.12.2010 | Research Report | Sonderheft 3/2010

Large neutral amino acids in daily practice

01.12.2010 | Research Report | Sonderheft 3/2010

Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease

01.12.2010 | Case Report | Sonderheft 3/2010

Optic neuropathy in methylmalonic acidemia: the role of neuroprotection

01.12.2010 | Case Report | Sonderheft 3/2010 Open Access

Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction

01.12.2010 | Case Report | Sonderheft 3/2010

Aminoacylase 1 deficiency associated with autistic behavior

01.12.2010 | Research Report | Sonderheft 3/2010

Glycogen storage disease type III in the Irish population

01.12.2010 | Research Report | Sonderheft 3/2010

Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

01.12.2010 | Case Report | Sonderheft 3/2010 Open Access

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance

01.12.2010 | Research Report | Sonderheft 3/2010

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease

01.12.2010 | Research Report | Sonderheft 3/2010

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

01.12.2010 | Case Report | Sonderheft 3/2010

Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha

01.12.2010 | Case Report | Sonderheft 3/2010

Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

01.12.2010 | Research Report | Sonderheft 3/2010

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

01.12.2010 | Research Report | Sonderheft 3/2010

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications

01.12.2010 | RESEARCH REPORT | Sonderheft 3/2010

Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents

01.12.2010 | Research Report | Sonderheft 3/2010

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan

01.12.2010 | Research Report | Sonderheft 3/2010 Open Access

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage

01.12.2010 | Research Report | Sonderheft 3/2010

High frequencies of biotinidase (BTD) gene mutations in the Hungarian population

01.12.2010 | Research Report | Sonderheft 3/2010

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing

01.12.2010 | Research Report | Sonderheft 3/2010 Open Access

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)

01.12.2010 | Research Report | Sonderheft 3/2010

Past, present and future of newborn screening in Chile

01.12.2010 | Research Report | Sonderheft 3/2010

A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene

01.12.2010 | Case Report | Sonderheft 3/2010

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

01.12.2010 | Research Report | Sonderheft 3/2010

Simultaneous LC-MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine

01.12.2010 | Case Report | Sonderheft 3/2010

Pulmonary hemorrhage in type 3 Gaucher disease: a case report

01.12.2010 | Research Report | Sonderheft 3/2010

Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy

01.12.2010 | Research Report | Sonderheft 3/2010

Expanded newborn screening in Greece: 30 months of experience

01.12.2010 | Case Report | Sonderheft 3/2010

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency

01.12.2010 | Case Report | Sonderheft 3/2010

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

01.12.2010 | Research Report | Sonderheft 3/2010

Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density

01.12.2010 | Research Report | Sonderheft 3/2010

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

01.12.2010 | Research Report | Sonderheft 3/2010

Dietary modifications in patients receiving miglustat

01.12.2010 | Case Report | Sonderheft 3/2010

Case report: long-term outcome post-heart transplantation in a woman with Fabry’s disease

01.12.2010 | Case Report | Sonderheft 3/2010

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report

01.12.2010 | Research Report | Sonderheft 3/2010

Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome)

01.12.2010 | Case Report | Sonderheft 3/2010 Open Access

Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency

01.12.2010 | Case Report | Sonderheft 3/2010

Treatment of cobalamin C (cblC) deficiency during pregnancy

01.12.2010 | Case Report | Sonderheft 3/2010 Open Access

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I

01.12.2010 | Research Report | Sonderheft 3/2010

Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey

01.12.2010 | Research Report | Sonderheft 3/2010

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

01.12.2010 | Case Report | Sonderheft 3/2010

Misdiagnosis of Niemann-Pick disease type C as Gaucher disease

01.12.2010 | Research Report | Sonderheft 3/2010

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China

01.12.2010 | Case Report | Sonderheft 3/2010

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

01.12.2010 | Research Report | Sonderheft 3/2010

Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations

01.12.2010 | Case Report | Sonderheft 3/2010

Exacerbation of erythropoietic protoporphyria by hyperthyroidism

01.12.2010 | Case Report | Sonderheft 3/2010

Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophy

01.12.2010 | Case Report | Sonderheft 3/2010

Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib

01.12.2010 | Research Report | Sonderheft 3/2010

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

01.12.2010 | Case Report | Sonderheft 3/2010

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients

01.12.2010 | Case Report | Sonderheft 3/2010

Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG)

01.12.2010 | Case Report | Sonderheft 3/2010

Neonatal cholestasis: an uncommon presentation of hyperargininemia

01.12.2010 | Case Report | Sonderheft 3/2010

Maternal and fetal tyrosinemia type I

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