Lista de obras - Diana Ballhausen - Dominio Público Uruguay

(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.

artículo científico publicado en 2016

Achondrogenesis Type 1B

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Atelosteogenesis Type 2

artículo científico publicado en 1993

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Diastrophic Dysplasia

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Epidemiology of mucopolysaccharidoses.

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2016

Mass spectrometric analysis of human transferrin in different body fluids

artículo científico publicado en 2003

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

artículo científico publicado en 2010

Multiple Epiphyseal Dysplasia, Recessive

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

artículo científico publicado en 2004

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5 ⬇️

artículo científico publicado el 20 de junio de 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Vorzeitig generalisierte Polyarthrose (Stickler Syndrom)

artículo científico publicado en 2002

[New therapies for children affected by bone diseases]

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Lista de obras de 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

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5 ⬇️

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].