about
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaTransport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III AAmmonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type IThe unsolved puzzle of neuropathogenesis in glutaric aciduria type I.Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.Hydroxylated residues influence desensitization behaviour of recombinant alpha3 glycine receptor channels.Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityBorn 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.Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.Cross-sectional observational study of 208 patients with non-classical urea cycle disordersEpidemiology of mucopolysaccharidoses.Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.Mass spectrometric analysis of human transferrin in different body fluids.Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity.Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues.Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.MRI and (1)H-MRS in adenosine kinase deficiency.Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.(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.Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.Clinical presentation and outcome in a series of 88 patients with the cblC defect.Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].Issues with European guidelines for phenylketonuriaPhenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registryHepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individualNew in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria[New therapies for children affected by bone diseases]Early neurological impairment and severe anemia in a newborn with Pearson syndromeFamilial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene
P50
Q26865440-6E24D483-3CFB-4DC3-A478-98B88CCF4DE1Q28115935-FC1A0126-B26A-4060-B045-0D09C93E7D0DQ28484964-65D9E35F-4D51-4840-B814-15104E687B2BQ33352180-0B49E412-0FFA-41C3-B36B-6DFAF9FF1706Q33384144-558CF832-9627-4A1A-B0ED-105D501EC537Q34152624-3D9305C4-5142-43E3-B7CE-65DF1475D6B7Q34620362-1A766BC4-67A4-4780-A777-1CFD8452FE74Q35603247-500D636F-7E24-484B-B08D-219F2E417E75Q35768443-DEAAB6AB-FB2C-4B49-80C6-1751BEC2D902Q36597203-704029AB-4992-4E29-B432-812DF08EFA5DQ37223955-D11F1336-15BF-4626-89C3-3E68DDC50137Q37469825-F72F87D0-DEDC-4E13-8FB9-964D7A1327DDQ38735623-80C2C7B8-CC11-47B9-B10E-6B1A54C87BD9Q40237006-F64E7A98-1FB3-42CB-950E-E83F90B69D9BQ41938886-B105CB77-69BC-48F5-9E37-E7734F96BC65Q43174751-C917E120-7582-4273-95F9-F8FC25AC9B96Q44083084-C927D8EF-F50B-469C-8BE6-D21B767F6969Q44716280-C0A3ED7F-D3E6-41E7-A30F-DED1F6289C51Q44732120-6B978B3D-1481-4848-86C9-72A07F44A2F9Q46554531-1EF0E99F-4AEA-408F-8D84-7C349E937718Q46596404-3969F608-5571-4686-A820-C00CF2364AB4Q46805938-ABF9EDB9-F035-4F12-B7C3-06BA2D233B12Q46865025-A4D638E3-9AF2-4494-A5E7-85879A971C7AQ48393151-C120716E-DBA9-402B-B421-96D80336CE8DQ48528549-433C8EA9-DE64-4CB5-BD64-791550CBD7CFQ48823944-6AAF7EF9-4E33-4F9F-BF17-7E1EB6727AE7Q50233431-BBA2E210-2FBB-4E35-83C1-D333E5C4C4EFQ50282473-F310A6B6-EFB3-4C60-A1BE-FB4B78294FD6Q50420777-4B920F2B-FB9B-447E-9708-5FA2DC90A97AQ50682539-95927140-7C3D-450E-9E28-D16F963D5AF1Q51921461-B2FCB341-515E-4AD1-A9BC-5A6B8EDBA489Q52923556-5096AA00-F838-4C4E-A89C-993EBDCB9724Q54597764-90317825-9385-4F22-BF91-236F9CFD7933Q59444780-601AD3EF-6C89-4712-A72C-642692DADA02Q62123732-EC60ACB7-14C9-448B-81F6-6A006135FE14Q62123733-FDCB267D-A073-46E8-82BF-885F233E08A2Q62123734-52923735-7F34-4513-8BF5-25DCCE613565Q62123750-E19ABA76-588C-45FD-AEB0-76B4953E437BQ62123758-7C1E180E-B5B0-464B-AB11-47FBE84C96A8Q62123766-860C6704-8AB6-47A7-99B3-6E3BD6E96571
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Diana Ballhausen
@ast
Diana Ballhausen
@en
Diana Ballhausen
@es
Diana Ballhausen
@nl
Diana Ballhausen
@sl
type
label
Diana Ballhausen
@ast
Diana Ballhausen
@en
Diana Ballhausen
@es
Diana Ballhausen
@nl
Diana Ballhausen
@sl
prefLabel
Diana Ballhausen
@ast
Diana Ballhausen
@en
Diana Ballhausen
@es
Diana Ballhausen
@nl
Diana Ballhausen
@sl
P106
P1153
6505851396
P21
P31
P496
0000-0003-2940-3439