Found: 28
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Acute renal failure due to rhabdomyolysis in a child with McArdle disease.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Cirrhosis in an infant heterozygous for classical citrullinaemia.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Simultaneous succinylacetone-nitisinone measurement in tyrosinemia type I patients and evaluation of the nitisinone therapeutic range.
- Published in:
- Biochimica Clinica, 2023, v. 47, n. 4, p. 340, doi. 10.19186/BC_2023.063
- By:
- Publication type:
- Article
A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 3, p. 378, doi. 10.1177/0883073814530499
- By:
- Publication type:
- Article
Early severe anemia as the first sign of cystic fibrosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Autism: Screening of inborn errors of metabolism and unexpected results.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 5, p. 887, doi. 10.1002/aur.2486
- By:
- Publication type:
- Article
A Rare Cause of Lower Extremity Ulcers.
- Published in:
- International Journal of Lower Extremity Wounds, 2016, v. 15, n. 1, p. 86, doi. 10.1177/1534734615619550
- By:
- Publication type:
- Article
New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 9, p. 820, doi. 10.1515/jpem-2024-0284
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- Publication type:
- Article
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 4, p. 451, doi. 10.1515/jpem-2021-0278
- By:
- Publication type:
- Article
Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 6, p. 805, doi. 10.1515/jpem-2020-0655
- By:
- Publication type:
- Article
The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
- Published in:
- JPEN Journal of Parenteral & Enteral Nutrition, 2021, v. 45, n. 8, p. 1788, doi. 10.1002/jpen.2121
- By:
- Publication type:
- Article
Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features.
- Published in:
- Turkish Journal of Medical Sciences, 2020, v. 50, n. 4, p. 1048, doi. 10.3906/sag-1908-70
- By:
- Publication type:
- Article
The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition.
- Published in:
- Turkish Journal of Medical Sciences, 2019, v. 49, n. 1, p. 206, doi. 10.3906/sag-1808-63
- By:
- Publication type:
- Article
Clinical course and outcome of glycogen-storage disease type 1a and type 1b.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Glikojen depo tip 1a ve tip 1b olgular.
- Published in:
- Türk Pediatri Arşivi, 2013, v. 48, n. 2, p. 117, doi. 10.4274/tpa.185
- By:
- Publication type:
- Article
Postoperative Secondary Glaucoma and Anterior Staphyloma in a Patient With Homocystinuria.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2005, v. 42, n. 4, p. 243, doi. 10.3928/01913913-20050701-09
- By:
- Publication type:
- Article
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
- Published in:
- Turkish Journal of Pediatrics, 2014, v. 56, n. 4, p. 418
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- Publication type:
- Article
Hypercalcemia in glycogen storage disease type I patients of Turkish origin.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 1, p. 35
- By:
- Publication type:
- Article
Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.
- Published in:
- Pediatric Drugs, 2024, v. 26, n. 3, p. 287, doi. 10.1007/s40272-024-00627-9
- By:
- Publication type:
- Article
Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.
- Published in:
- Annals of Nutrition & Metabolism, 2020, v. 76, n. 4, p. 233, doi. 10.1159/000509335
- By:
- Publication type:
- Article
An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochondrial DNA depletion syndrome with a novel mutation.
- Published in:
- Neurology Asia, 2022, v. 27, n. 1, p. 199, doi. 10.54029/2022zpv
- By:
- Publication type:
- Article
Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.
- Published in:
- Iranian Journal of Kidney Diseases, 2019, v. 13, n. 1, p. 67
- By:
- Publication type:
- Article
Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
- Published in:
- Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 4, p. 598, doi. 10.1007/s00774-020-01193-z
- By:
- Publication type:
- Article
Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report.
- Published in:
- 2008
- By:
- Publication type:
- Case Study
Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Variants of Fumarate Hydratase Gene in Uterine Disorders: A Clinical Trial.
- Published in:
- Journal of Clinical Obstetrics & Gynecology, 2023, v. 33, n. 2, p. 81, doi. 10.5336/jcog.2022-94609
- By:
- Publication type:
- Article
PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS.
- Published in:
- Medical Journal of Suleyman Demirel University, 2021, v. 28, n. 4, p. 565, doi. 10.17343/sdutfd.928607
- By:
- Publication type:
- Article