Found: 32
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Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine.
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- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 6, p. 361, doi. 10.1002/jmd2.12439
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- Article
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
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- Human Genetics, 2023, v. 142, n. 7, p. 909, doi. 10.1007/s00439-023-02552-2
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- Article
Nasljedna nepodnošljivost fruktoze - pregled literature i prikaz dvoje bolesnika.
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- Paediatria Croatica, 2021, v. 65, n. 1, p. 36, doi. 10.13112/PC.2021.6
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- Article
Pompeova bolest -- progresivna multiorganska bolest: dijagnostički i terapijski izazovi.
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- Paediatria Croatica, 2020, v. 64, n. 4, p. 253, doi. 10.13112/PC.2020.37
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- Article
Put prema biobanci kultiviranih kožnih fibroblasta bolesnika s nasljednim metaboličkim poremećajima u Hrvatskoj.
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- Paediatria Croatica, 2017, v. 61, n. 1, p. 26, doi. 10.13112/PC.2017.3
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- Article
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 762, doi. 10.1038/ejhg.2013.241
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- Article
Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA<sup>Trp</sup> gene.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 871, doi. 10.1038/ejhg.2012.272
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- Article
ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 3, p. 389, doi. 10.1515/jpem-2020-0396
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- Publication type:
- Article
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
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- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 10, p. 1155, doi. 10.1515/jpem-2017-0397
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- Article
Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
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- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 1, p. 71, doi. 10.1515/jpem-2017-0302
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- Publication type:
- Article
Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 9, p. 1083, doi. 10.1515/jpem-2016-0086
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- Publication type:
- Article
Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.
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- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.673600
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- Publication type:
- Article
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.
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- Biochemia Medica, 2018, v. 28, n. 3, p. 1, doi. 10.11613/BM.2018.030801
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- Article
Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene.
- Published in:
- Collegium Antropologicum, 2009, v. 33, n. 4, p. 1255
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- Article
PROGRAM PROŠIRENOG NOVOROĐENAČKOG PROBIRA U REPUBLICI HRVATSKOJ - ZAHTJEVI I IZAZOVI PRAVILNOG UZIMANJA SUHE KAPI KRVI.
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- Paediatria Croatica, Supplement, 2018, v. 62, p. 10
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- Publication type:
- Article
KARDIOMIOPATIJE ZBOG NASLJEDNIH METABOLIČKIH BOLESTI - STARI I NOVI IZAZOVI.
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- Paediatria Croatica, Supplement, 2017, v. 61, p. 127
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- Article
Kako iz nalaza krvne slike prepoznati nasljednu metaboličku bolest?
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- Paediatria Croatica, Supplement, 2016, v. 60, p. 79
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- Article
GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
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- Clinical Genetics, 2023, v. 104, n. 5, p. 598, doi. 10.1111/cge.14405
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- Article
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1048, doi. 10.1002/jimd.12549
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- Article
Postauthorization safety study of betaine anhydrous.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 719, doi. 10.1002/jimd.12499
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- Publication type:
- Article
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 5, doi. 10.1007/s10545-016-9972-7
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- Article
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
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- Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae160
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- Article
Metaboličke miopatije.
- Published in:
- Lijecnicki Vjesnik, 2024, v. 146, p. 174, doi. 10.26800/LV-146-supl1-26
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- Article
Dileme u postavljanju dijagnoze nasljednih metaboličkih bolesti analizom gena i kako si pomoći.
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- Lijecnicki Vjesnik, 2024, v. 146, p. 130, doi. 10.26800/LV-146-supl1-19
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- Article
Suvremeni pogled na lizosomske bolesti nakupljanja.
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- Lijecnicki Vjesnik, 2024, v. 146, p. 152, doi. 10.26800/LV-146-supl1-23
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- Article
Epilepsije i epileptičke encefalopatije zbog prirođenih poremećaja metabolizma.
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- Lijecnicki Vjesnik, 2024, v. 146, p. 162, doi. 10.26800/LV-146-supl1-24
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- Article
Racionalno indiciranje metaboličkih pretraga.
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- Lijecnicki Vjesnik, 2024, v. 146, p. 119, doi. 10.26800/LV-146-supl1-17
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- Article
Pet godina proširenog novorođenačkog probira u Hrvatskoj – što smo postigli?
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- Lijecnicki Vjesnik, 2023, v. 145, p. 21, doi. 10.26800/LV-145-supl5-6
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- Article
CR57 Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening.
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- Lijecnicki Vjesnik, 2023, v. 145, p. 75, doi. 10.26800/LV-145-supl2-CR57
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- Article
Iskustva s galaktozemijom u Hrvatskoj.
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- Lijecnicki Vjesnik, 2023, v. 145, n. 1/2, p. 1, doi. 10.26800/LV-145-1-2-1
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- Publication type:
- Article
Obiteljski hipofosfatemijski rahitis: genetska osnova, prikaz slučaja te novi pristupi u liječenju.
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- Lijecnicki Vjesnik, 2022, v. 144, p. 61, doi. 10.26800/LV-144-supl6-PS34
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- Article
Novorođenački skrining u Hrvatskoj i u svijetu.
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- Paediatria Croatica, 2013, v. 57, n. 4, p. 350
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- Article