المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB

المصدر: Annals of neurology. 82(6):1004-1015

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137244001

المؤلفون: Wortmann, SB, van Hasselt, PM, Baric, I, Burlina, A, Darin, N, Horster, F, Coker, M, Ucar, SK, Krumina, Z, Naess, K, Ngu, LH, Pronicka, E, Riordan, G, Santer, R, Wassmer, E, Zschocke, J, Schiff, M, de Meirleir, L, Alowain, MA, Smeitink, JAM, Morava, E, Kozicz, T, Wevers, RA, Wolf, NI, Willemsen, MA

المصدر: Neuropediatrics. 46(2):98-103

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130990870

المؤلفون: Yunus, Z Md.^Aff1, Kamaludin, DP Abg^Aff1, Mamat, M^Aff1, Choy, Y S^{Aff2, Aff3}, Ngu, LH^Aff4

المساهمون: SSIEM

المصدر: JIMD Reports - Case and Research Reports, 2012/2. 5:99-107

المؤلفون: Ngu Lh, Al Kartikasalwah

المصدر: Biomedical Imaging and Intervention Journal

مصطلحات موضوعية: Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Radiological and Ultrasound Technology, business.industry, Biomedical Engineering, nutritional and metabolic diseases, Case Report, Progressive neurodegenerative disorder, macromolecular substances, mitochondrial, Mr imaging, Leigh syndrome, Neuroimaging, SURF1, Basal ganglia, Medicine, Radiology, Nuclear Medicine and imaging, Brainstem, business, Neurological problems, Mri findings, MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d8ed0e190d8208a5c7722b442bd1fb2
http://europepmc.org/articles/PMC3097793

المؤلفون: Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, Keng WT

المصدر: Journal of Pediatric Gastroenterology & Nutrition; 2011 Jan, Vol. 52 Issue 1, p113-116, 4p

المؤلفون: Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I

المصدر: Neurology; 7/6/2010, Vol. 75 Issue 1, p64-71, 8p

المؤلفون: Ong TL; Neurology Unit, Medical Department Hospital Sungai Buloh, Ministry of Health Sungai Buloh Malaysia., Lau YH; Neurology Unit, Medical Department Hospital Tengku Ampuan Rahimah Klang, Ministry of Health Sungai Buloh Malaysia., Ngu LH; Department of Genetics Hospital Kuala Lumpur, Ministry of Health Kuala Lumpur Malaysia., Hadi D; Paediatric Neurology Department Hospital Tunku Azizah Kuala Lumpur, Ministry of Health Kuala Lumpur Malaysia., Lau KM; Department of Internal Medicine Royal Victoria Hospital, Belfast Health & Social Care Trust Northern Ireland UK., Mawardi AS; Neurology Department Hospital Kuala Lumpur, Ministry of Health Kuala Lumpur Malaysia.

المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2023 Aug 24; Vol. 10 (Suppl 3), pp. S38-S40. Date of Electronic Publication: 2023 Aug 24 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: eCollection Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: PubMed not MEDLINE

المؤلفون: Chan MY; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia. mc.meiyan@gmail.com., Jalil JA; Unit of Biochemistry, Institute for Medical Research, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Yakob Y; Unit of Molecular Diagnostics, Specialised Diagnostics Centre, National Institutes of Health, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Wahab SAA; Unit of Molecular Diagnostics, Specialised Diagnostics Centre, National Institutes of Health, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Ali EZ; Unit of Inborn Errors of Metabolism and Genetic, Nutrition, Metabolism and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Khalid MKNM; Unit of Molecular Diagnostics, Specialised Diagnostics Centre, National Institutes of Health, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Leong HY; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia., Chew HB; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia., Sivabalakrishnan JB; Department of Pediatric Cardiology, Hospital Tunku Azizah, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Ngu LH; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 04; Vol. 18 (1), pp. 231. Date of Electronic Publication: 2023 Aug 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Hypertrophic*/drug therapy , Cardiomyopathy, Hypertrophic*/genetics , Glycogen Storage Disease Type II*/drug therapy , Glycogen Storage Disease Type II*/genetics , Glycogen Storage Disease Type II*/diagnosis, Humans ; alpha-Glucosidases/genetics ; Genotype ; Glycogen ; Muscle Hypotonia ; Phenotype ; Retrospective Studies ; Treatment Outcome

المؤلفون: Himmelreich N; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany., Bertoldi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Alfadhel M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alghamdi MA; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, SA, Saudi Arabia., Anikster Y; Metabolic Disease Unit, The Edmond and Lily Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University, Israel., Bao X; Department of Pediatrics, Peking University First Hospital, Beijing, China., Bashiri FA; Division of Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Zeev BB; Pediatric Neurology, Safra Pediatric Hospital, Sheba Medical Center, Sackler School of Medicine, Tel Aviv University, Ramat Gan, Israel., Bisello G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Ceylan AC; Ankara Yıldırım Beyazıt University, Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Chien YH; Department of Medical Genetics & Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Choy YS; Prince Court Medical Center, Kuala Lumpur, Malaysia., Elsea SH; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Flint L; AADC Research Trust, Surrey, UK., García-Cazorla À; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain., Gijavanekar C; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gümüş EY; Department of Pediatrics and Inherited Metabolic Diseases, Marmara University School of Medicine, Istanbul, Turkey., Hamad MH; Neurology Division, Pediatric Department, King Saud University Medical City, Riyadh, SA, Saudi Arabia., Hişmi B; Department of Pediatrics and Inherited Metabolic Diseases, Marmara University School of Medicine, Istanbul, Turkey., Honzik T; Dept. of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Kuseyri Hübschmann O; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Hwu WL; Department of Medical Genetics & Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Ibáñez-Micó S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain., Jeltsch K; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Juliá-Palacios N; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain., Kasapkara ÇS; Department of Pediatric Metabolism, Ankara Yıldırım Beyazıt University, Ankara Bilkent City Hospital, Ankara, Turkey., Kurian MA; Developmental Neurosciences, Zayed Centre for Research, UCL GOS-Institute of Child Health & Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Kusmierska K; Department of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland., Liu N; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ngu LH; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Malaysia., Odom JD; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ong WP; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Malaysia., Opladen T; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Oppeboen M; Children's Department, Division of Child Neurology and Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Pearl PL; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pérez B; Centro de Diagnostico de Enfermedades Moleculares, CIBERER, IdiPAZ, Universidad Autonoma de Madrid, Madrid, Spain., Pons R; First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece., Rygiel AM; Department of Medical Genetics, Laboratory of Hereditary Diseases, Institute of Mother and Child, Warsaw, Poland., Shien TE; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Spaull R; Developmental Neurosciences, Zayed Centre for Research, UCL GOS-Institute of Child Health & Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland., Tabarki B; Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Tangeraas T; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Thöny B; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland., Wassenberg T; UZ Brussel, Department of Pediatrics, Brussels, Belgium., Wen Y; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, SA, Saudi Arabia., Yakob Y; Molecular Diagnostics Unit, Specialised Diagnostics Centre, Institute for Medical Research, National Institute of Health, Ministry of Health, Malaysia., Yin JGC; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Zeman J; Dept. of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Blau N; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Aug; Vol. 139 (4), pp. 107647. Date of Electronic Publication: 2023 Jul 07.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Chan MY; Department of Genetics, Hospital Kuala Lumpur, Malaysia., Nelson AJ; Department of Genetics, Hospital Kuala Lumpur, Malaysia., Ngu LH; Department of Genetics, Hospital Kuala Lumpur, Malaysia.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Jul 12; Vol. 36, pp. 100991. Date of Electronic Publication: 2023 Jul 12 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE