JIMD reports

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volume 65, number 2, 2024

Déborah Mathis, Jean-Christophe Prost, Gabriela Maeder, Liya Arackal, Haoyue Zhang, Sandra Kurth, Katrin Freiburghaus, Jean-Marc Nuoffer
Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports 65 (2) (2024)
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature. JIMD reports 65 (2) (2024)
Rohit Hirachan, Alistair Horman, Derek Burke, Simon J R Heales
Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots. JIMD reports 65 (2) (2024)
Merel E Hermans, Gert J Geurtsen, Carla E M Hollak, Annet M Bosch
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients. JIMD reports 65 (2) (2024)
Parith Wongkittichote, Cassandra Pantano, Miao He, Xinying Hong, Matthew M Demczko
Clinical, biochemical and molecular characterization of a new case with FDX2 -related mitochondrial disorder: Potential biomarkers and treatment options. JIMD reports 65 (2) (2024)
Alberto B Burlina, Alessandro P Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Matthias R Baumgartner, Vincenza Gragnaniello
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression. JIMD reports 65 (2) (2024)
Rohit Hirachan, Alistair Horman, Derek Burke, Simon J R Heales
Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots. JIMD reports 65 (2) (2024)
Parith Wongkittichote, Cassandra Pantano, Miao He, Xinying Hong, Matthew M Demczko
Clinical, biochemical and molecular characterization of a new case with FDX2 -related mitochondrial disorder: Potential biomarkers and treatment options. JIMD reports 65 (2) (2024)
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature. JIMD reports 65 (2) (2024)
Alberto B Burlina, Alessandro P Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Matthias R Baumgartner, Vincenza Gragnaniello
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression. JIMD reports 65 (2) (2024)
Déborah Mathis, Jean-Christophe Prost, Gabriela Maeder, Liya Arackal, Haoyue Zhang, Sandra Kurth, Katrin Freiburghaus, Jean-Marc Nuoffer
Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports 65 (2) (2024)
Lelde Liepina, Desiree E C Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie-Claire de Wit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J Blom
5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings. JIMD reports 65 (2) (2024)
Lelde Liepina, Desiree E C Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie-Claire de Wit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J Blom
5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings. JIMD reports 65 (2) (2024)
Merel E Hermans, Gert J Geurtsen, Carla E M Hollak, Annet M Bosch
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients. JIMD reports 65 (2) (2024)

volume 65, number 3, 2024

Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava
Normal transferrin glycosylation does not rule out severe ALG1 deficiency. JIMD reports 65 (3) (2024)
Jessica I Gold, Arianna K Stefanatos, Jamie L Fraser, Adeline Vanderver, Sanmati Cuddapah
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria. JIMD reports 65 (3) (2024)
Emily Singh, Young-In Chi, Jessica Kopesky, Michael Zimmerman, Raul Urrutia, Donald Basel, Jessica Scott Schwoerer
Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype. JIMD reports 65 (3) (2024)
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R Coughlin, Morgan Drumm, Sommer Gaughan, Clara D M van Karnebeek, Annemiek M J van Wegberg
Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines. JIMD reports 65 (3) (2024)
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour-Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation? JIMD reports 65 (3) (2024)
Gustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Elaine Freitas, Andréa Gislene do Nascimento, Camila Pugliese, Fernando Kok, Silvia Maria de Macedo Barbosa
Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital. JIMD reports 65 (3) (2024)
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava
Normal transferrin glycosylation does not rule out severe ALG1 deficiency. JIMD reports 65 (3) (2024)
R M J Thewissen, Merel A Post, D M Maas, R Veizaj, I Wagenaar, M Alsady, J Kools, K Bouman, H Zweers, P G Meregalli, A J van der Kooi, P A van Doorn, J T Groothuis, D J Lefeber, N C Voermans
Oral ribose supplementation in dystroglycanopathy: A single case study. JIMD reports 65 (3) (2024)
Jessica I Gold, Arianna K Stefanatos, Jamie L Fraser, Adeline Vanderver, Sanmati Cuddapah
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria. JIMD reports 65 (3) (2024)
Jessica I Gold, Arianna K Stefanatos, Jamie L Fraser, Adeline Vanderver, Sanmati Cuddapah
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria. JIMD reports 65 (3) (2024)
Emily Singh, Young-In Chi, Jessica Kopesky, Michael Zimmerman, Raul Urrutia, Donald Basel, Jessica Scott Schwoerer
Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype. JIMD reports 65 (3) (2024)
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour-Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation? JIMD reports 65 (3) (2024)
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R Coughlin, Morgan Drumm, Sommer Gaughan, Clara D M van Karnebeek, Annemiek M J van Wegberg
Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines. JIMD reports 65 (3) (2024)
Gustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Elaine Freitas, Andréa Gislene do Nascimento, Camila Pugliese, Fernando Kok, Silvia Maria de Macedo Barbosa
Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital. JIMD reports 65 (3) (2024)
R M J Thewissen, Merel A Post, D M Maas, R Veizaj, I Wagenaar, M Alsady, J Kools, K Bouman, H Zweers, P G Meregalli, A J van der Kooi, P A van Doorn, J T Groothuis, D J Lefeber, N C Voermans
Oral ribose supplementation in dystroglycanopathy: A single case study. JIMD reports 65 (3) (2024)

volume 65, number 4, 2024

Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G Bannister, Natasha J Brown, Maureen S Evans, Sharmila Kiss, Thomas H Rozen, Joy Yaplito-Lee
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis. JIMD reports 65 (4) (2024)
Subadra Wanninayake, Antonio Ochoa-Ferraro, Karishma Patel, Radha Ramachandran, Anthony S Wierzbicki, Charlotte Dawson
Two successful pregnancies -in patients taking Volanesorsen for familial chylomicronemia syndrome. JIMD reports 65 (4) (2024)
Mark A Keibler, Gautham V Sridharan, Marianne T Sweetser, Simina Ticau
Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patients. JIMD reports 65 (4) (2024)
Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker. JIMD reports 65 (4) (2024)
Khalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al-Habsi, Eiman Al-Ajmi, Fatma Al-Jasmi, Fathiya Al Murshedi
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency. JIMD reports 65 (4) (2024)
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I Wolf, Annet M Bosch
Riboflavin transporter deficiency in young adults unmasked by dietary changes. JIMD reports 65 (4) (2024)
Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, Amna Al-Futaisi, Fathiya Al Murshedi
Transient response to high-dose niacin therapy in a patient with NAXE deficiency. JIMD reports 65 (4) (2024)
Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker. JIMD reports 65 (4) (2024)
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I Wolf, Annet M Bosch
Riboflavin transporter deficiency in young adults unmasked by dietary changes. JIMD reports 65 (4) (2024)
Linley Mangini, Roger Lawrence, Manuel E Lopez, Timothy C Graham, Christopher R Bauer, Hang Nguyen, Cheng Su, John Ramphal, Brett E Crawford, Tom A Hartl
Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia. JIMD reports 65 (4) (2024)
Mark A Keibler, Gautham V Sridharan, Marianne T Sweetser, Simina Ticau
Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patients. JIMD reports 65 (4) (2024)
Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, Amna Al-Futaisi, Fathiya Al Murshedi
Transient response to high-dose niacin therapy in a patient with NAXE deficiency. JIMD reports 65 (4) (2024)
Andrea B Schreuder, R J Overduin, N C Peltenburg, L de Boer, F A J A Bodewes, T G J Derks
Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia. JIMD reports 65 (4) (2024)
Subadra Wanninayake, Antonio Ochoa-Ferraro, Karishma Patel, Radha Ramachandran, Anthony S Wierzbicki, Charlotte Dawson
Two successful pregnancies -in patients taking Volanesorsen for familial chylomicronemia syndrome. JIMD reports 65 (4) (2024)
Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G Bannister, Natasha J Brown, Maureen S Evans, Sharmila Kiss, Thomas H Rozen, Joy Yaplito-Lee
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis. JIMD reports 65 (4) (2024)
Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko
The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine. JIMD reports 65 (4) (2024)
Andrea B Schreuder, R J Overduin, N C Peltenburg, L de Boer, F A J A Bodewes, T G J Derks
Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia. JIMD reports 65 (4) (2024)
Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko
The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine. JIMD reports 65 (4) (2024)
Khalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al-Habsi, Eiman Al-Ajmi, Fatma Al-Jasmi, Fathiya Al Murshedi
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency. JIMD reports 65 (4) (2024)
Linley Mangini, Roger Lawrence, Manuel E Lopez, Timothy C Graham, Christopher R Bauer, Hang Nguyen, Cheng Su, John Ramphal, Brett E Crawford, Tom A Hartl
Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia. JIMD reports 65 (4) (2024)

volume 65, number 2, 2023

Nahya Awada, Martin Holcik
Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study. JIMD reports 65 (2) (2023)