نتائج البحث

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

• Authors : Leo A. B. Joosten; Hanan Abdelaziz; Safaa M. Abdelrahman

Subjects: Male; Cystinosis; Nephropathic cystinosis

• Source: Orphanet Journal of Rare Diseases

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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

• Authors : G. Peter A. Smit; K. E. Niezen-Koning; Dirk-Jan Reijngoud ...

Subjects: medicine.medical_specialty; Genotype; NETHERLANDS

• Source: Orphanet journal of rare diseases, 8:43. BMCOrphanet Journal of Rare Diseases

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Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

• Authors : C. M. L. Touw; Annet M. Bosch; Terry G J Derks ...

Subjects: NETHERLANDS; lcsh:Medicine; CHILDREN

• Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, 7(30). BioMed Central LtdOrphanet

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Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.

• Authors : Beyzaei, Zahra¹ (AUTHOR); Geramizadeh, Bita^1,2 (AUTHOR) ; Karimzadeh, Sara³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/14/2020, Vol. 15 Issue 1, p1-13. 13p.

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A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

• Authors : Shuan-Pei Lin^1,2,3,4; Hsiang-Yu Lin^1,2,3,4,5; Tuen-Jen Wang^6,7

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-8. 8p.

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Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

• Authors : Marcadier, Julien L.¹ ; Smith, Amanda M.²; Pohl, Daniela³

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-9. 9p. 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph.

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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

• Authors : Ferdinandusse, Sacha¹ ; Waterham, Hans R.¹ ; Heales, Simon J. R.^2,3,4

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-21. 21p. 1 Black and White Photograph, 1 Chart, 3 Graphs.

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Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry

• Authors : Charlotte Hinault; Céline Caruba; Laurent Bonesso ...

Subjects: Male; MALDI-TOF/TOF; Oligosaccharides

• Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.19.

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Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.

• Authors : Cohen, Jennifer L.^1,2 ; Burfield, Jessica¹ ; Valdez-Gonzalez, Karen³

• Source: Orphanet Journal of Rare Diseases. 8/14/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.

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Characteristics of Pompe disease in China: a report from the Pompe registry.

• Authors : Zhao, Yuying¹ ; Wang, Zhaoxia² ; Lu, Jiahong³

• Source: Orphanet Journal of Rare Diseases. 4/3/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.

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