Autor: "Bulut FD" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Autorzy:: Şeker Yılmaz B; Department of Pediatric Metabolism, University of Mersin, Faculty of Medicine, Mersin, Turkey; Genetics and Genomics Medicine Department, Institute of Child Health, University College London, London, UK
Kor D; Department of Pediatric Metabolism, University Hospital Çukurova, Adana, Turkey
Bulut FD; Department of Pediatric Metabolism, Adana City Research and Training Hospital, Adana, Turkey
Kılavuz S; Department of Pediatric Metabolism, University Hospital Çukurova, Adana, Turkey
Ceylaner S; Intergen Genetics Laboratories, Ankara, Turkey
Önenli Mungan HN; Department of Pediatric Metabolism, University Hospital Çukurova, Adana, Turkey; Pokaż więcej
Źródło:: Turkish journal of medical sciences [Turk J Med Sci] 2021 Jun 28; Vol. 51 (3), pp. 1220-1228. Date of Electronic Publication: 2021 Jun 28.
Typ publikacji:: Journal Article
MeSH Terms:: Amino Acid Metabolism, Inborn Errors*/genetics
Mitochondrial Membrane Transport Proteins*/genetics
Adult ; Humans ; Methylmalonic Acid ; Methylmalonyl-CoA Mutase/genetics ; Mutation
SCR Disease Name:: Methylmalonic acidemia

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Skocz do pozycji: 2.

Tytuł:: Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.
Autorzy:: Kılavuz S; Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University,, Adana, Turkey.
Basaran S; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Çukurova University, Adana, Turkey.
Kor D; Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University,, Adana, Turkey.
Bulut FD; Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University,, Adana, Turkey.
Erdem S; Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey.
Ballı HT; Department of Radiology, Faculty of Medicine, Çukurova University, Adana, Turkey.
Dağkıran M; Department of Ear, Nose and Throat Diseases, Faculty of Medicine, Çukurova University, Adana, Turkey.
Bisgin A; Medical Genetics Department of Medical Faculty, Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey.
Mungan HNÖ; Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University, 01130, Sarıçam, Adana, Turkey. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 22; Vol. 16 (1), pp. 144. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Chondroitinsulfatases*
Mucopolysaccharidosis IV*/drug therapy
Adult ; Child ; Enzyme Replacement Therapy ; Humans ; Retrospective Studies ; Turkey

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Skocz do pozycji: 3.

Tytuł:: Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Autorzy:: Bulut FD; Adana City Training and Research Hospital, Clinic of Pediatrics, Adana, Turkey
Özdemir Dilek S; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Adana, Turkey
Kotan D; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Adana, Turkey
Mengen E; Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Gürbüz F; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Adana, Turkey
Yüksel B; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Adana, Turkey; Pokaż więcej
Źródło:: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2020 Sep 02; Vol. 12 (3), pp. 261-268. Date of Electronic Publication: 2020 Jan 17.
Typ publikacji:: Journal Article
MeSH Terms:: Homeodomain Proteins/*genetics
Hypopituitarism/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Consanguinity ; DNA Mutational Analysis ; Dwarfism, Pituitary/drug therapy ; Dwarfism, Pituitary/epidemiology ; Dwarfism, Pituitary/genetics ; Family ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Hormone Replacement Therapy ; Human Growth Hormone/therapeutic use ; Humans ; Hypopituitarism/drug therapy ; Hypopituitarism/epidemiology ; Infant ; Male ; Mutation ; Retrospective Studies ; Turkey/epidemiology ; Young Adult
SCR Disease Name:: Combined Pituitary Hormone Deficiency

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Skocz do pozycji: 4.

Tytuł:: Can untreated PKU patients escape from intellectual disability? A systematic review.
Autorzy:: van Vliet D; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, 9700, RB, Groningen, The Netherlands.
van Wegberg AMJ; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, 9700, RB, Groningen, The Netherlands.; Department of Gastroenterology, Radboud University Medical Center, Nijmegen, The Netherlands.
Ahring K; Department of PKU, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.
Bik-Multanowski M; University Children's Hospital, Jagiellonian University, Krakow, Poland.
Blau N; Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
Bulut FD; Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Casas K; Medical Genetics, Sanford Health, Fargo, ND, USA.
Didycz B; University Children's Hospital, Jagiellonian University, Krakow, Poland.
Djordjevic M; Mother and Child Health Care Institute of Serbia Dr Vukan Cupic, School of Medicine, University of Belgrade, Belgrade, Serbia.
Federico A; Department of Medical, Surgical and Neurological Sciences, Medical School, University of Siena, Policlinico Santa Maria Alle Scotte, Siena, Italy.
Feillet F; Department of Pediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.
Gizewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Gramer G; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Hertecant JL; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, Netherlands.
Jørgensen JV; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
Karall D; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
Landau Y; Metabolic Disease Unit, Sheba Medical Center, Edmond and Lily Safra Children's Hospital, Tel Aviv, Israel.
Leuzzi V; Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
Mathisen P; Department of Internal Medicine, Oslo University Hospital, Oslo, Norway.
Moseley K; Genetics Division, Department of Pediatrics, Keck School of Medicine, University of Southern California, California, Los Angeles, USA.
Mungan NÖ; Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Nardecchia F; Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Powell KK; Department of Genetics and Metabolism, Chapel Hill hospital, University of North Carolina, Chapel Hill, USA.
Ramachandran R; Department of Chemical Pathology and Metabolic Medicine, Guys and St Thomas' Hospitals NHS foundation trust, London, UK.
Rutsch F; Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany.
Setoodeh A; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
Trefz FK; Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
Usurelu N; Institute of Mother and Child, Centre of Reproductive Health and Medical Genetics, Chisinau, Moldova.
Wilson C; Newborn Metabolic Screening Unit, LabPlus, Auckland City Hospital, Auckland, New Zealand.
van Karnebeek CD; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, Emma Children's Hospital, Amsterdam, The Netherlands.; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada.
Hanley WB; Clinical and Biochemical Genetics, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Canada.
van Spronsen FJ; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, 9700, RB, Groningen, The Netherlands. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Aug 29; Vol. 13 (1), pp. 149. Date of Electronic Publication: 2018 Aug 29.
Typ publikacji:: Journal Article; Systematic Review
MeSH Terms:: Intellectual Disability/*blood
Intellectual Disability/*etiology
Phenylketonurias/*blood
Phenylketonurias/*complications
Female ; Humans ; Male ; Phenylalanine/blood

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