List of works - Diana Ballhausen

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

scientific article published on 29 September 2016

Achondrogenesis Type 1B

scientific article published on 14 November 2013

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

scientific article published on 7 December 2015

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I

scientific article

Ammonium accumulation and chemokine decrease in culture media of Gcdh−/− 3D reaggregated brain cell cultures

article

Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria

scientific article published on 30 July 2016

Atelosteogenesis Type 2

scientific article

Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant.

scientific article published on September 2011

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.

scientific article published on 8 January 2013

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

scientific article published on 6 March 2014

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

scientific article published on 9 August 2008

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

scientific article published on 19 June 2013

Diastrophic Dysplasia

scientific article published on 18 July 2013

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

scientific article

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

scientific article published on 14 June 2008

Epidemiology of mucopolysaccharidoses.

scientific article published on 26 May 2017

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

scientific article

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

scientific article published on 12 May 2005

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

scientific article published on 2 February 2010

Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy

scientific article published on 9 May 2008

Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual

scientific article published on 14 June 2018

Hydroxylated residues influence desensitization behaviour of recombinant alpha3 glycine receptor channels.

scientific article

Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues

scientific article published on 27 October 2016

Issues with European guidelines for phenylketonuria

scholarly article by Peter Burgard et al published September 2017 in The Lancet: Diabetes & Endocrinology

MRI and (1)H-MRS in adenosine kinase deficiency

scientific article published on 18 March 2016

Mass spectrometric analysis of human transferrin in different body fluids

scientific article

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

scientific article published on 11 May 2010

Multiple Epiphyseal Dysplasia, Recessive

scientific article published on 23 January 2014

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

scientific article published on 28 May 2009

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

scientific article published on 19 August 2015

New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria

scientific article published in August 2018

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

scientific article published on 3 December 2007

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

scientific article published on 3 September 2018

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

scientific article

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

scientific article

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

scientific article published in January 2003

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

scientific article published in January 2012

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

scientific article published on December 2011

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency

scientific article published on 19 February 2010

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

scientific article published in March 2006

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

scientific article

The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

scientific article

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

scientific journal article

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

scientific article published on 16 February 2018

Vorzeitig generalisierte Polyarthrose (Stickler Syndrom)

scientific article published in February 2002

[New therapies for children affected by bone diseases]

scientific article published on 22 February 2012

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

scientific article

List of works by Diana Ballhausen

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

Achondrogenesis Type 1B

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I

Ammonium accumulation and chemokine decrease in culture media of Gcdh−/− 3D reaggregated brain cell cultures

Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria

Atelosteogenesis Type 2

Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant.

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Diastrophic Dysplasia

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

Epidemiology of mucopolysaccharidoses.

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy

Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual

Hydroxylated residues influence desensitization behaviour of recombinant alpha3 glycine receptor channels.

Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues

Issues with European guidelines for phenylketonuria

MRI and (1)H-MRS in adenosine kinase deficiency

Mass spectrometric analysis of human transferrin in different body fluids

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

Multiple Epiphyseal Dysplasia, Recessive

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

Vorzeitig generalisierte Polyarthrose (Stickler Syndrom)

[New therapies for children affected by bone diseases]

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].