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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Clinical journal of the American Society of Nephrology, 2013-04, Vol.8 (4), p.649-657

2013

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104: Prenatal whole exome sequencing identifies genetic causes of congenital heart disease in fetuses with normal karyotype and normal microarray

American journal of obstetrics and gynecology, 2016, Vol.214 (1), p.S71-S72

2016

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1196 PLASMA AND MUSCLE CARNITINE DEFICIENCY IN RENAL FANCONI SYNDROME

Pediatric research, 1985-04, Vol.19 (4), p.310-310A

1985

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3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

Molecular genetics and metabolism, 2002-07, Vol.76 (3), p.201-206

2002

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A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.307-314

2011

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30 RENAL HANDLING OF SIALIC ACID (SA)

Pediatric research, 1988-08, Vol.24 (2), p.265-265

1988

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Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF V600E mutation

European radiology, 2018-09, Vol.28 (9), p.3751-3759

2018

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Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation

European radiology, 2018-09, Vol.28 (9), p.3751-3759

2018

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Abnormal glycosylation in Joubert syndrome type 10

Cilia (London), 2017-03, Vol.6 (1), p.2-2, Article 2

2017

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Abnormal Pituitary Imaging and Associated Endocrine Dysfunctions in Erdheim-Chester Disease

Journal of the Endocrine Society, 2021-05, Vol.5 (Supplement_1), p.A622-A622

2021

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Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome

Glycobiology (Oxford), 1995-07, Vol.5 (5), p.503-510

1995

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Abnormal Translocation of Tyrosinase and Tyrosinase-Related Protein 1 in Cutaneous Melanocytes of Hermansky–Pudlak Syndrome and in Melanoma Cells Transfected with Anti-Sense HPS1 cDNA

Journal of investigative dermatology, 2001-09, Vol.117 (3), p.641-647

2001

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ACCELERATION OF ALKAPTONURIC SPONDYLOARTHROPATHY IN A PATIENT WITH CHRONIC KIDNEY DISEASE

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107430, Article 107430

2023

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Acetylated polyamines as substrates for human pregnancy serum diamine oxidase

Life sciences (1973), 1981-11, Vol.29 (21), p.2177-2179

1981

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An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome

Journal of allergy and clinical immunology, 2018-09, Vol.142 (3), p.914-927.e6

2018

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Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report

Advances in Rare Diseases, 2016

2016

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Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2102-2107

2021

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Adult-onset neurodegeneration in XMEN disease

Journal of neuroimmunology, 2024-01, Vol.386, p.578251-578251, Article 578251

2024

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Adult-onset Neurodegeneration in XMEN (P11-9.002)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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Advancing free sialic acid storage (FSASD) disorder disease modeling: Insights from iPSC-derived neural cell types

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108023, Article 108023

2024

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Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis

Cornea, 2002-03, Vol.21 (2), p.173-176

2002

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients: HUMAN MUTATION

Human mutation, 2016-07, Vol.37 (7), p.653-660

2016

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Alkaptonuria

The New England journal of medicine, 2003-04, Vol.348 (14), p.1408-1408

2003

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Allele-specific silencing of the dominant disease allele in sialuria by RNA interference

The FASEB journal, 2008-11, Vol.22 (11), p.3846-3852

2008

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The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

Journal of thrombosis and haemostasis, 2010-08, Vol.8 (8), p.1786-1796

2010

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

104: Prenatal whole exome sequencing identifies genetic causes of congenital heart disease in fetuses with normal karyotype and normal microarray

1196 PLASMA AND MUSCLE CARNITINE DEFICIENCY IN RENAL FANCONI SYNDROME

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

30 RENAL HANDLING OF SIALIC ACID (SA)

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF V600E mutation

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation

Abnormal glycosylation in Joubert syndrome type 10

Abnormal Pituitary Imaging and Associated Endocrine Dysfunctions in Erdheim-Chester Disease

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome

Abnormal Translocation of Tyrosinase and Tyrosinase-Related Protein 1 in Cutaneous Melanocytes of Hermansky–Pudlak Syndrome and in Melanoma Cells Transfected with Anti-Sense HPS1 cDNA

ACCELERATION OF ALKAPTONURIC SPONDYLOARTHROPATHY IN A PATIENT WITH CHRONIC KIDNEY DISEASE

Acetylated polyamines as substrates for human pregnancy serum diamine oxidase

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome

Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

Adult-onset neurodegeneration in XMEN disease

Adult-onset Neurodegeneration in XMEN (P11-9.002)

Advancing free sialic acid storage (FSASD) disorder disease modeling: Insights from iPSC-derived neural cell types

Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients: HUMAN MUTATION

Alkaptonuria

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference

The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

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