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Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.442-442, Article 442

2022

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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Molecular genetics and metabolism, 2008-03, Vol.93 (3), p.275-281

2008

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Fumaric aciduria: Mild phenotype in a 8‐year‐old girl with novel mutations

Journal of inherited metabolic disease, 2006-10, Vol.29 (5), p.683-683

2006

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Psycho-organic symptoms as early manifestation of adult onset POMT1 -related limb girdle muscular dystrophy

Neuromuscular disorders : NMD, 2014-11, Vol.24 (11), p.990-992

2014

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Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

Clinical genetics, 2017-05, Vol.91 (5), p.787-796

2017

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S‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.885-902

2005

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P102 Bone marrow trabnsplantation for acute myeloid leukemia from donor with Gaucher disease followed by enzyme replacement therapy (ERT)

Leukemia research, 2007, Vol.31, p.S110-S111

2007

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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Human mutation, 2012-08, Vol.33 (8), p.1161-1165

2012

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POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons

Neuropediatrics, 2009-02, Vol.40 (1), p.6

2009

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Inborn errors of metabolism at the turn of the millennium

Croatian medical journal, 2001-08, Vol.42 (4), p.379-383

2001

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PP15.13 – 2509: European network about inherited neurometabolic diseases

European journal of paediatric neurology, 2015-05, Vol.19, p.S93-S93

2015

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Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation

Acta neurologica Belgica, 2014-06, Vol.114 (2), p.165-166

2014

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Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome

Journal of child neurology, 2001-08, Vol.16 (8), p.616-619

2001

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Growth and metabolic characteristics of CCO cells in static and dynamic cultivation systems

Journal of biotechnology, 2008-10, Vol.136, p.S135-S135

2008

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3FC1.6 S-adenosylhomocysteine hydrolase deficiency -a natural model for study of various neurological problems in children with possible dysmethylation pathogenesis

European journal of paediatric neurology, 2011-05, Vol.15, p.S27-S27

2011

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Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation

European journal of paediatric neurology, 2011-03, Vol.15 (2), p.171-173

2011

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S-Adenosylhomocysteine Hydrolase Deficiency in a Human: A Genetic Disorder of Methionine Metabolism

Proceedings of the National Academy of Sciences - PNAS, 2004-03, Vol.101 (12), p.4234-4239

2004

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P05.10 Early-onset Gaucher disease (GD) in an infant – what phenotype to expect along the neuronopathic continuum and how to treat it?

European journal of paediatric neurology, 2011-05, Vol.15, p.S51-S52

2011

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Lipid-bound sialic acid, prostaglandin e and histamine in head and neck cancer

European journal of cancer (1990), 1993, Vol.29 (6), p.839-845

1993

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A new case of succinyl‐CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity

Journal of inherited metabolic disease, 2001-02, Vol.24 (1), p.81-82

2001

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PB2204 SERUM YKL‐40 LEVELS ARE ELEVATED IN PRIMARY AND SECONDARY MYELOFIBROSIS AND MAY BE AFFECTING THEIR SURVIVAL

HemaSphere, 2019-06, Vol.3 (S1), p.987-988

2019

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Analytical performance of the Abbott Spectrum High-Performance Diagnostic System evaluated

Clinical chemistry (Baltimore, Md.), 1988-09, Vol.34 (9), p.1917

1988

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A235 Diagnostic possibilities for neurometabolic diseases leukodystrophy

European journal of paediatric neurology, 1999, Vol.3 (6), p.A92-A92

1999

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Plasma biomarker identification in S-adenosylhomocysteine hydrolase deficiency

Electrophoresis, 2011-08, Vol.32 (15), p.1970-1975

2011

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Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report

Journal of computer assisted tomography, 2010-09, Vol.34 (5), p.762-765

2010

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Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Fumaric aciduria: Mild phenotype in a 8‐year‐old girl with novel mutations

Psycho-organic symptoms as early manifestation of adult onset POMT1 -related limb girdle muscular dystrophy

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

S‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

P102 Bone marrow trabnsplantation for acute myeloid leukemia from donor with Gaucher disease followed by enzyme replacement therapy (ERT)

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons

Inborn errors of metabolism at the turn of the millennium

PP15.13 – 2509: European network about inherited neurometabolic diseases

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation

Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome

Growth and metabolic characteristics of CCO cells in static and dynamic cultivation systems

3FC1.6 S-adenosylhomocysteine hydrolase deficiency -a natural model for study of various neurological problems in children with possible dysmethylation pathogenesis

Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation

S-Adenosylhomocysteine Hydrolase Deficiency in a Human: A Genetic Disorder of Methionine Metabolism

P05.10 Early-onset Gaucher disease (GD) in an infant – what phenotype to expect along the neuronopathic continuum and how to treat it?

Lipid-bound sialic acid, prostaglandin e and histamine in head and neck cancer

A new case of succinyl‐CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity

PB2204 SERUM YKL‐40 LEVELS ARE ELEVATED IN PRIMARY AND SECONDARY MYELOFIBROSIS AND MAY BE AFFECTING THEIR SURVIVAL

Analytical performance of the Abbott Spectrum High-Performance Diagnostic System evaluated

A235 Diagnostic possibilities for neurometabolic diseases leukodystrophy

Plasma biomarker identification in S-adenosylhomocysteine hydrolase deficiency

Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report

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