POSTER SESSION 6: Metabolic Disorders
Tracks
POSTER AREA
| Thursday, September 19, 2019 |
| 12:15 PM - 1:00 PM |
| POSTER AREA (Balcony Muses Foyer) |
Overview
P06-01 to P06-34
Speaker
Dr. Alejandra Darling
Sant Joan De Déu Hospital
P06-01 | Expanding the neurological spectrum of Seipin Deficiency (BSCL2), a complex lipid defect
Dr. Charles Lourenco
Centro Universitario Estacio De Ribeirao Preto
P06-02 | Sanfilippo Syndrome Type B: a continuum spectrum of clinical phenotypes
Dr. Monica Troncoso Shifferli
Hospital San Borja Arriaran
P06-03 | Long-term effectiveness of Enzyme Replacement Therapy (ERT) in paediatric patients with Mucopolysaccharidosis Type II
Dr. Stella Mouskou
Children's Hospital "P & Aglaia Kyriakou"
P06-04 | Stuttering as a prominent clinical feature in an adolescent patient with CLN3 Disease
Dr. Terence R Flotte
Horae Gene Therapy Center, University of Massachusetts Medical School
P06-05 | AXO-AAV-GM2 for the treatment of GM2 Gangliosidoses: programme overview
Dr. Amna Al Futaisi
Sultan Qaboos University Hospital
P06-06 | Asparagine Synthetase Deficiency – A rare neurometabolic disorder with Congenital Microcephaly, early speech delay and Drug Refractory Epilepsy – Experience from Oman
Dr. Bülent Kara
Kocaeli University Medical Faculty
P06-07 | Molybden Cofactor Deficiency Type B presenting with Guillain-Barré Syndrome-like flaring of Chronic Peripheral Neuropathy, Intellectual Disability and Dysmorphism
Dr. Chrysoula Michaletou
Children's Hospital Agia Sofia
P06-08 | Succinic Semialdehyde Dehydrogenase Deficiency – A case report
Dr. Debasree Das
Great Ormond Street Hospital
P06-09 | Neuroimaging spectrum of GM1 Gangliosidosis with description of novel imaging phenotypes
Dr. Dilek Cavusoglu
Afyon Saglik Bilimleri Universitesi Hastanesi
P06-10 | A rare case presentation: a novel mutation in GTPBP3 gene
Dr. Furene Wang
National University Hospital
P06-11 | Fatal Neonatal Onset of Mitochondrial DNA Depletion Syndrome due to novel MPV17 gene variants in two sisters
Dr. Halyna Fedushka
National Children's Specialized Hospital "OKHMATDYT"
P06-12 | Differential diagnosis for X-linked Adrenoleukodystrophy
Dr. Jamie Benoit
Axovant Gene Therapies
P06-13 | AXO-AAV-GM1 for the treatment of GM1 Gangliosidosis: programme overview
Dr. Jose Miguel Cardenas
Hospital San Borja
P06-14 | Quality of life in patients with Morquio A Syndrome treated in a Paediatric Neurology reference centre
Dr. Kiwako Tsukida
Jichi Medical University
P06-15 | Neuronal Ceroid Lipofuscinoses Type 6 and impaired autophagy system
Dr. Makiko Kaga
Tokyo Metropolitan Tobu Medical Center for Children With Developmental Disabilities
P06-16 | Twenty years’ follow-up of Bone Marrow Transplantation (BMT) in two patients with Adrenoleukodystrophy (ALD)
Dr. Maria Kyriazi
Aristotle University Of Thessaloniki
P06-17 | The 7th Greek case of Tyrosine Hydroxylase Deficiency: even stronger evidence for a founder effect
Dr. Mariya Sigatullina
University Hospital Vall De Hebron
P06-18 | Leigh Encephalopathy in patients with valine metabolism defects due to mutations in HIBCH and ECHS1 genes
Dr. Mesut Güngör
Kocaeli University Medical Faculty
P06-19 | Severe MTHFR Deficiency with Hyperhomocysteinemia, Demyelinating Leukodystrophy and Psycho-Motor Retardation
Dr. Miraç Yıldırım
Hacettepe University
P06-20 | Glucose Transporter Type 1 (Glut-1) Deficiency Syndrome: a single centre case series
Dr. Monika Kukuruzovic
UHC Sestre milosrdnice
P06-21 | Metacromatic Leukodystrophy – Rare and serious progressive disease
Mrs. Nesibe Gevher Eroglu Ertugrul
Hacettepe University
P06-22 | Leukodystrophy and differential diagnosis of Arylsulfatase Deficiency
Dr. Noelia Rivera Sanchez
Hospital Sant Joan De Deu
P06-23 | Congenital Disorder of Glycosylation (CDG) Type II associated with a SLC39A8 gene variant: description of two siblings with variable phenotype
Dr. Pinar Gencpinar
Tepecik Training and Research Hospital
P06-24 | Metachromatic Leukodystrophy: a case report of a new mutation
Dr. Ruzica Kravljanac
Institute For Mother And Child Healthcare Of Serbia
P06-25 | Clinical and genetic aspects of Progressive Myoclonus Epilepsy: experience in a cohort of 48 children
Mrs. Seyda Besen
Plaza Event Kongre Organizasyon
P06-26 | Clinical characteristics and inherited metabolic or genetic aetiologies of Homocystinemia; a single centre experience
Dr. Silvia Masnada
University Of Pavia
P06-27 | Phenotypic spectrum of Short-Chain enoyl-CoA Hydratase-1 Deficiency
Ms. Flavia Almeida
Centro Universitario Estácio Ribeirao Preto- BR
P06-28 | Advances in the natural history of an underdiagnosed group of Neurometabolic Disorders: the International Niemann-Pick Diseases Registry (INPDR)
Mrs. Isabela Caldas Ferreira
Centro Universitário Estácio Ribeirão Preto
P06-29 | Neuronal Ceroid Lipofuscinosis Type 2: when the "atypical" phenotypes may be the typical ones
Mr. Athanasios Moraitis
Ippokratio General Hospital Of Thessaloniki
P06-30 | Ethylmalonic Encephalopathy: a rare inborn error of metabolism with a unique constellation of clinic-radiological features
Ms. Maria Parasyri
Queen Silvia Children`s Hospital Sweden
P06-31 | The natural history of renal manifestations in patients with Mitochondrial Disease
Ms. Shanice Beerepoot
Department Of Child Neurology, Amsterdam Umc
P06-32 | Progressive Demyelinating Neuropathy after hematopoietic cell transplantation in Metachromatic Leukodystrophy: a case series
Prof. Feriha Catibusic
Mrs
P06-33 | Neurodegeneration with Brain Iron Accumulation (NBIA) – Two cases in Bosnia and Herzegovina
Dr. Mark Bechter
Aeglea Biopharmaceuticals
P06-34 | Delays in diagnosis are associated with poor clinical outcomes in patients with Arginase 1 deficiency
Chair
Barbara Plecko
Department of General Paediatrics, University Clinic for Pediatrics and Adolescent Medicine, Graz Medical University
Robert Steinfeld
Pediatric Neurology Department, University Children’s Hospital Zurich - Eleonore Foundation
